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

Journal of Inherited Metabolic Disease

Volumn 28, Issue 6, 2005, Pages 877-883

  Al Sayed, Moeen ^a   Alahmed, S ^a   Alsmadi, O ^a   Khalil, H ^a   Rashed, M S ^a   Imtiaz, F ^a   Meyer, B F ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININOSUCCINATE LYASE; GLUTAMINE;

ALLELE; AMINOACIDURIA; ARAB; ARGININOSUCCINIC ACIDURIA; ARTICLE; BLOOD ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; NUCLEOTIDE SEQUENCE; ONSET AGE; POPULATION GENETICS; PRESCHOOL CHILD; SAUDI ARABIA; SEQUENCE ANALYSIS; SIBLING; TANDEM MASS SPECTROMETRY;

ALLELES; AMINO ACID METABOLISM, INBORN ERRORS; ARGININOSUCCINATE LYASE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME; GENOTYPE; HUMANS; INFANT, NEWBORN; MALE; MASS SPECTROMETRY; MUTATION; NEONATAL SCREENING; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SAUDI ARABIA; SEQUENCE ANALYSIS, DNA; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION;

EID: 31644451878     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-0081-2     Document Type: Article

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