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Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia

✍ Scribed by Enza Di Leo; Lucia Magnolo; Elisa Pinotti; Scipione Martini; Irene Cortella; Nicola Vitturi; Claudio Rabacchi; Alessia Wunsch; Francesco Pucci; Stefano Bertolini; Sebastiano Calandra; Patrizia Tarugi


Book ID
116988434
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
463 KB
Volume
96
Category
Article
ISSN
1096-7192

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Novel mutations of APOB cause ApoB trunc
✍ Pin Yue; Bo Yuan; Daniela S. Gerhard; Rosalind J. Neuman; William L. Isley; Will πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 152 KB

Familial hypobetalipoproteinemia (FHBL) is a genetic disorder characterized by low levels of apoB-100 and LDL cholesterol. Truncation-producing mutations of apoB (chromosome 2) are among several potential causes of FHBL in patients. Ten new families with FHBL linked to chromosome 2 were identified.