Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

Human Genetics

Volumn 107, Issue 6, 2000, Pages 537-545

  Yasuda, T ^a   Yamaguchi, N ^a   Kobayashi, K ^a   Nishi, I ^a   Horinouchi, H ^a   Jalil, M A ^a   Li, M X ^a   Ushikai, M ^a   Iijima, M ^a   Kondo, I ^a   Saheki, T ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININOSUCCINATE SYNTHASE; MESSENGER RNA;

ADULT; ADULTHOOD; AGED; ARTICLE; CITRULLINEMIA; CONSANGUINITY; CONTROLLED STUDY; CROSS REACTION; DISEASE CARRIER; ENZYME ACTIVITY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOREACTIVITY; LIVER; MAJOR CLINICAL STUDY; MALE; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; WESTERN BLOTTING;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; ARGININOSUCCINATE SYNTHASE; BLOTTING, WESTERN; CALCIUM-BINDING PROTEINS; CHILD; CITRULLINEMIA; CROSS REACTIONS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; HUMANS; INCIDENCE; LIVER; MALE; MEMBRANE TRANSPORT PROTEINS; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MUTATION;

EID: 17744397286     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000430     Document Type: Article

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