Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. (Q34002665)

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26 December 2019

title

Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene (English)

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26 December 2019

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6

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26 December 2019

Giuseppe Basso

8

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26 December 2019

author name string

Eva Trevisson

1

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26 December 2019

Leonardo Salviati

2

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26 December 2019

Maria Cristina Baldoin

3

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26 December 2019

Irene Toldo

4

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26 December 2019

Alberto Casarin

5

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26 December 2019

Luca Cesaro

7

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26 December 2019

Alberto B Burlina

9

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26 December 2019

publication date

1 July 2007

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26 December 2019

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26 December 2019

volume

28

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26 December 2019

issue

7

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26 December 2019

page(s)

694-702

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Structural comparison of the enzymatically active and inactive forms of delta crystallin and the role of histidine 91

26 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20498

7 January 2021

Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria

1 reference

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7 January 2021

Electrostatics of nanosystems: application to microtubules and the ribosome

1 reference

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7 January 2021

Determination of argininosuccinate lyase and arginase activities with an amino acid analyzer

1 reference

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7 January 2021

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

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7 January 2021

Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20498

7 January 2021

Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20498

7 January 2021

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20498

7 January 2021

Inborn errors of metabolism: the flux from Mendelian to complex diseases.

1 reference

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7 January 2021

Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20498

7 January 2021

Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20498

7 January 2021

Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20498

7 January 2021

Cloning and sequence analysis of cDNA for human argininosuccinate lyase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20498

7 January 2021

Optimization of protein kinase CK2 inhibitors derived from 4,5,6,7-tetrabromobenzimidazole

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20498

7 January 2021

Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20498

7 January 2021

Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20498

7 January 2021

Mutations and polymorphisms in the human ornithine transcarbamylase gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20498

7 January 2021

Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20498

7 January 2021

Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20498

7 January 2021

Intragenic complementation and the structure and function of argininosuccinate lyase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20498

7 January 2021

Identifiers

DOI

10.1002/HUMU.20498

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26 December 2019

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