A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene.

Journal of medical genetics

Volumn 38, Issue 7, 2001, Pages

  Hwu, W L ^a   Kobayashi, K ^a   Hu, Y H ^a   Yamaguchi, N ^a   Saheki, T ^a   Chou, S P ^a   Wang, J H ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; CALCIUM BINDING PROTEIN; CARRIER PROTEIN; CITRULLINE; MITOCHONDRIAL PROTEIN; SLC25A13 PROTEIN, HUMAN;

ADULT; BLOOD; CASE REPORT; CHINA; CHRONIC KIDNEY FAILURE; CITRULLINEMIA; CLASSIFICATION; ENZYMOLOGY; FEMALE; GENE DELETION; GENE EXPRESSION REGULATION; GENETICS; HUMAN; LETTER; LIVER; MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; URINE;

ADULT; AGE OF ONSET; AMMONIA; CALCIUM-BINDING PROTEINS; CHINA; CITRULLINE; CITRULLINEMIA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; KIDNEY FAILURE, CHRONIC; LIVER; MEMBRANE TRANSPORT PROTEINS; MITOCHONDRIAL PROTEINS; MUTAGENESIS, INSERTIONAL; MUTATION; SEQUENCE DELETION;

MLCS; MLOWN;

EID: 0035405977     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.38.7.e23     Document Type: Letter

References (0)