Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia

Human Genetics

Volumn 110, Issue 4, 2002, Pages 327-333

  Haberle J ^a   Pauli, S ^a   Linnebank, M ^a   Kleijer, W J ^b   Bakker, H D ^c   Wanders, R J A ^c   Harms, E ^a   Koch, H G ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININOSUCCINATE SYNTHASE; CITRULLINE;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BIOCHEMISTRY; CITRULLINEMIA; CLINICAL ARTICLE; DISEASE SEVERITY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; HUMAN; INTRON; MALE; MOLECULAR BIOLOGY; NUCLEOTIDE SEQUENCE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SYMPTOM; UREA CYCLE;

AMINO ACID SEQUENCE; ARGININOSUCCINATE SYNTHASE; BASE SEQUENCE; CITRULLINEMIA; DNA PRIMERS; DNA, COMPLEMENTARY; HUMANS; MOLECULAR SEQUENCE DATA; SEQUENCE HOMOLOGY, AMINO ACID;

EQUUS ASINUS;

EID: 0036556311     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0686-6     Document Type: Article

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