Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

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Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

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2010 nî lūn-bûn

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2010 թուականի Մարտին հրատարակուած գիտական յօդուած

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2010 թվականի մարտին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

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Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

@en

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia.

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Item

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Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

@ast

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

@en

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia.

@nl

prefLabel

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

@ast

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

@en

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia.

@nl

P1476

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

@en

P2093

Bashair R Al-Mubarak

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Danyah Trabzuni

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Faiqa Imtiaz

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Moeen Al-Sayed

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Mohamed S Rashed

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Osama Alsmadi

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P2860

Gene sharing by delta-crystallin and argininosuccinate lyase

Human argininosuccinate lyase: a structural basis for intragenic complementation

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

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

Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry

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

Expression, purification, and kinetic characterization of recombinant human adenylosuccinate lyase

Comprehensive human genome amplification using multiple displacement amplification.

Application of electrospray tandem mass spectrometry to neonatal screening.

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

P2888

1756-0500-3-79

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scholarly article

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10.1186/1756-0500-3-79

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P478

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P50

Brian F Meyer

P577

2010-03-18T00:00:00Z

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42344138

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1045067332

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20298553

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2851718

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