PAHdb: a locus-specific knowledgebase. (Q52131583)

22 April 2018

title

PAHdb: a locus-specific knowledgebase. (English)

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22 April 2018

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1

Scriver CR

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Waters PJ

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Sarkissian C

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Ryan S

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Prevost L

5

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Côté D

6

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Novak J

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Teebi S

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Nowacki PM

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publication date

1 January 2000

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22 April 2018

published in

Human Mutation

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volume

15

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issue

1

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page(s)

99-104

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22 April 2018

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

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The structural basis of phenylketonuria

21 January 2018

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Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria

21 January 2018

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A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype

21 January 2018

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PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus

21 January 2018

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Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations

21 January 2018

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Structural characterization of the 5' regions of the human phenylalanine hydroxylase gene

21 January 2018

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Conformational changes: how small is big enough?

21 January 2018

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The PAH mutation analysis consortium database: update 1996.

21 January 2018

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PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases

21 January 2018

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A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase

21 January 2018

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Genomics, mutations and the Internet: the naming and use of parts

21 January 2018

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Monogenic traits are not simple: lessons from phenylketonuria

21 January 2018

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Guidelines and recommendations for content, structure, and deployment of mutation databases

21 January 2018

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Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience

21 January 2018

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Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations

21 January 2018

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Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations

21 January 2018

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Proof of "disease causing" mutation

21 January 2018

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The HUGO Mutation Database Initiative

21 January 2018

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Characterization of mutations at the mouse phenylalanine hydroxylase locus

21 January 2018

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Phenylketonuria; a problem in eugenics

21 January 2018

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In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function

21 January 2018

1 reference

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Phenylketonuria mutations in Germany

21 January 2018

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10.1002/(SICI)1098-1004(200001)15:1<99::AID-HUMU18>3.0.CO;2-P

21 January 2018

Identifiers

DOI

1 reference

22 April 2018

PubMed ID

10612829

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22 April 2018