Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease (Q44069010)

29 November 2017

Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease (English)

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29 November 2017

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29 November 2017

Flemming Steen Jørgensen

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29 November 2017

Peter Bross

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Michael Krawczak

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object named as

Michael Krawczak

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29 November 2017

Bent N Terp

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29 November 2017

Inge T Christensen

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29 November 2017

Niels Gregersen

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29 November 2017

1 August 2002

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29 November 2017

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29 November 2017

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29 November 2017

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29 November 2017

98-109

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Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

29 November 2017

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Multiple test procedures other than Bonferroni's deserve wider use.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

21 January 2018

The Protein Data Bank

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https://api.crossref.org/works/10.1002%2FHUMU.10095

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Protein misfolding and degradation in genetic diseases.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Molecular mechanics calculations of proteins. Comparison of different energy minimization strategies.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

The structural basis of phenylketonuria

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Amino acid difference formula to help explain protein evolution

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Structural basis for type I and type II deficiencies of antithrombotic plasma protein C: patterns revealed by three-dimensional molecular modelling of mutations of the protease domain

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Comparative modeling methods: application to the family of the mammalian serine proteases

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

A comparative analysis of 23 structures of the amyloidogenic protein transthyretin

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype–phenotype correlations in phenylketonuria

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

PROCHECK: a program to check the stereochemical quality of protein structures

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Transthyretin mutations in hyperthyroxinemia and amyloid diseases

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

The intact and cleaved human antithrombin III complex as a model for serpin-proteinase interactions

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Transthyretin stability as a key factor in amyloidogenesis: X-ray analysis at atomic resolution

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Implications for function and therapy of a 2.9 A structure of binary-complexed antithrombin

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

What do dysfunctional serpins tell us about molecular mobility and disease?

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Prediction of deleterious human alleles

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Defective protein folding as a basis of human disease

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Prediction of the stability of protein mutants based on structural environment-dependent amino acid substitution and propensity tables

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

WHAT IF: a molecular modeling and drug design program

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Disentangling the perturbational effects of amino acid substitutions in the DNA-binding domain of p53.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

SNPs, protein structure, and disease.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

21 January 2018

Laws of form revisited

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https://api.crossref.org/works/10.1002%2FHUMU.10095

Validation of the general purpose Tripos 5.2 force field

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10095

7 January 2021

Predicting local structural changes that result from point mutations

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https://api.crossref.org/works/10.1002%2FHUMU.10095

7 January 2021

Predicting protein stability changes upon mutation using database-derived potentials: solvent accessibility determines the importance of local versus non-local interactions along the sequence

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https://api.crossref.org/works/10.1002%2FHUMU.10095

7 January 2021

Role of structural and sequence information in the prediction of protein stability changes: comparison between buried and partially buried mutations

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https://api.crossref.org/works/10.1002%2FHUMU.10095

7 January 2021

Human Gene Mutation Database?A biomedical information and research resource

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https://api.crossref.org/works/10.1002%2FHUMU.10095

7 January 2021

The 2.8 A crystal structure of Gla-domainless activated protein C

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https://api.crossref.org/works/10.1002%2FHUMU.10095

7 January 2021

Identifiers

DOI

10.1002/HUMU.10095

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29 November 2017

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