Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novelASLpseudogene-Reference-Cited by-同舟云学术

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Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novelASLpseudogene

Published:2007-07 Issue:7 Volume:28 Page:694-702
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Trevisson Eva,Salviati Leonardo,Baldoin Maria Cristina,Toldo Irene,Casarin Alberto,Sacconi Sabrina,Cesaro Luca,Basso Giuseppe,Burlina Alberto B.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference22 articles.

1. Structural comparison of the enzymatically active and inactive forms of delta crystallin and the role of histidine 91;Abu-Abed;Biochemistry,1997

2. Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria;Al-Sayed;J Inherit Metab Dis,2005

3. Electrostatics of nanosystems: application to microtubules and the ribosome;Baker;Proc Natl Acad Sci USA,2001

4. Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene;Barbosa;J Biol Chem,1991

5. Determination of argininosuccinate lyase and arginase activities with an amino acid analyzer;Bastone;Anal Biochem,1990

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