Novel <italic>MTTP</italic> Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism

Novel <italic>MTTP</italic> Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism

Abetalipoproteinaemia (ABL) is an autosomal recessive disorder characterized by very low plasma concentrations of total cholesterol and triglyceride (TG). It results from mutations in the gene encoding microsomal TG transfer protein (MTTP). A nine-month-old girl was admitted to hospital because of f...

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Bibliographic Details
Main Authors: Pembe Soylu Ustkoyuncu, Songül Gokay, Esra Eren, Durmus Dogan, Gokce Yıldız, Aysegul Yılmaz, Fatma Turkan Mutlu
Format: Article
Language:English
Published: Galenos Yayincilik 2020-12-01
Series:JCRPE
Subjects:
abetalipoproteinaemia
central hypothyroidism
mttp gene
novel mutation
Online Access: http://www.jcrpe.org/archives/archive-detail/article-preview/novel-imttp-i-gene-mutation-in-a-case-of-abetalipo/34570

Internet

http://www.jcrpe.org/archives/archive-detail/article-preview/novel-imttp-i-gene-mutation-in-a-case-of-abetalipo/34570

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