Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.

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Genetics and genomic medicine in Tunisia.

P2860

Q53692304-26494762-A0D6-478F-9522-F2E40524DE49

P2860

Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.

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http://www.wikidata.org/entity/Q46401865

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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name

Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.

@en

Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.

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type

Item

label

Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.

@en

Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.

@nl

prefLabel

Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.

@en

Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.

@nl

P1476

Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.

@en

P2093

Abdellatif Achour

http://www.w3.org/2001/XMLSchema#string

Ali Bouslama

http://www.w3.org/2001/XMLSchema#string

Amira Moussa

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Asma Omezzine

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Cécile Aquaviva-Bourdain

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Geneviéve Souche

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Hayet Kaarout

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Ibtihel M'barek

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Jalel Chemli

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Sabra Aloui

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P2860

The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II

Mutations in DHDPSL are responsible for primary hyperoxaluria type III

Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I

Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1

Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1

Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation

Primary hyperoxalurias: disorders of glyoxylate detoxification

Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene

Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations

Molecular etiology of primary hyperoxaluria type 1: new directions for treatment

P304

1-10

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scholarly article

P356

10.1111/AHG.12178

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English

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P478

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2016-12-09T00:00:00Z

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P698

27935012

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Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.

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P2860

P2860

Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.

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P1433

P1476

P2093

P2860

P304

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P356

P407

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698