Mutations and Polymorphisms in the Human Argininosuccinate Lyase (ASL) Gene

Human Mutation

Volumn 35, Issue 1, 2014, Pages 27-35

  Balmer, Cécile ^a,b   Pandey, Amit V ^c   Rüfenacht, Véronique ^a,b   Nuoffer, Jean Marc ^c   Fang, Ping ^d   Wong, Lee Jun ^d   Häberle, Johannes ^a,b  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b Children's Research Center   (Switzerland)

^c UNIVERSITY OF BERN   (Switzerland)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Argininosuccinate lyase; Argininosuccinic aciduria; ASA; ASL; Hyperammonemia

Indexed keywords

ARGININOSUCCINATE LYASE; ARGININOSUCCINIC ACID; TETRAMER;

ARGININOSUCCINIC ACIDURIA; ARTICLE; CRYSTAL STRUCTURE; DISEASE COURSE; DNA SEQUENCE; ENZYME ACTIVITY; FAMILY COUNSELING; FOUNDER EFFECT; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENOTYPE; HOMOZYGOSITY; HUMAN; HYPERAMMONEMIA; INDEL MUTATION; MISSENSE MUTATION; MUTAGENESIS; NEUROLOGIC DISEASE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; STOP CODON; SYSTEMATIC REVIEW;

ARGININOSUCCINATE LYASE; ARGININOSUCCINIC ACIDURIA; ASA; ASL; HYPERAMMONEMIA;

ARGININOSUCCINATE LYASE; ARGININOSUCCINIC ACIDURIA; BINDING SITES; CODON, NONSENSE; GENETIC VARIATION; GENOTYPE; HUMANS; MODELS, MOLECULAR; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN CONFORMATION; PROTEIN STRUCTURE, QUATERNARY; PROTEIN STRUCTURE, SECONDARY;

EID: 84890760921     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22469     Document Type: Article

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