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

• मुख्य लेखकों: Pembe Soylu Ustkoyuncu (लेखक), Songül Gokay (लेखक), Esra Eren (लेखक), Durmus Dogan (लेखक), Gokce Yıldız (लेखक), Aysegul Yılmaz (लेखक), Fatma Turkan Mutlu (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Galenos Yayincilik, 2020-12-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...