Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a cause of chylomicronemia. Mutations in brief no. 183. Online.

Human mutation

Volumn 12, Issue 3, 1998, Pages 217-

  Evans, D ^a   Wendt, D ^a   Ahle, S ^a   Guerra, A ^a   Beisiegel, U ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

LIPOPROTEIN LIPASE;

ARTICLE; CASE REPORT; FEMALE; GENETICS; HETEROZYGOTE DETECTION; HUMAN; HYPERLIPOPROTEINEMIA TYPE 1; INFANT; POINT MUTATION;

FEMALE; HETEROZYGOTE DETECTION; HUMANS; HYPERLIPOPROTEINEMIA TYPE I; INFANT; LIPOPROTEIN LIPASE; POINT MUTATION;

EID: 0032222561     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (0)