Familial Hypercholesterolemia: A Genetic Receptor Disease
作者:
GoldsteinJoseph L.,
BrownMichael S.,
期刊:
Hospital Practice
(Taylor Available online 1985)
卷期:
Volume 20,
issue 11
页码: 35-46
ISSN:2154-8331
年代: 1985
DOI:10.1080/21548331.1985.11703185
出版商: Taylor&Francis
数据来源: Taylor
摘要:
We now understand the biochemical basis of this disorder, which affects one person in 500 in the United States. It is inherited as an autosomal dominant or quasi-dominant trait, with phenotypic effects expressed in heterozygotes as well as in homozygotes. Diagnosis is possible at birth, but effective treatment is thus far available only for the heterozygous form.
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