A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients.

Human mutation

Volumn 20, Issue 3, 2002, Pages 232-

  Tang, Nelson L S ^a   Hwu, W L ^a   Chan, Rachel T ^a   Law, L K ^a   Fung, L M ^a   Zhang, W M ^a  

^a and Hong Kong Branch of CAS Center for Excellence in Animal Evolution and Genetics   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; CARRIER PROTEIN; DNA; MEMBRANE PROTEIN; ORGANIC CATION TRANSPORTER; SLC22A5 PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CHEMISTRY; CHILD; CHINA; DNA SEQUENCE; FEMALE; GENETICS; HUMAN; INFANT; MALE; MISSENSE MUTATION; PRESCHOOL CHILD;

CARNITINE; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CHINA; DNA; FEMALE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MUTATION, MISSENSE; ORGANIC CATION TRANSPORT PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 18244420879     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9053     Document Type: Article

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