Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency.

Human mutation

Volumn 15, Issue 1, 2000, Pages 118-

  Mayatepek, E ^a   Nezu, J ^a   Tamai, I ^a   Oku, A ^a   Katsura, M ^a   Shimane, M ^a   Tsuji, A ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

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

ARTICLE; CASE REPORT; CELL LINE; GENETICS; HETEROZYGOTE; HUMAN; INFANT; MALE; METABOLISM; MISSENSE MUTATION; SITE DIRECTED MUTAGENESIS;

CARNITINE; CARRIER PROTEINS; CELL LINE; HETEROZYGOTE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; ORGANIC CATION TRANSPORT PROTEINS;

EID: 0005419068     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU28>3.0.CO;2-8     Document Type: Article

References (0)