Molecular and functional analysis of two newMTTPgene mutations in an atypical case of abetalipoproteinemia

Characterization of Three Kindreds With Familial Combined Hypolipidemia Caused by Loss-of-Function Mutations of ANGPTL3

(2011) Livia Pisciotta et al.   Circulation-Cardiovascular Genetics

Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation

(2011) Jesús M. Martín-Campos et al.   CLINICA CHIMICA ACTA

A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP)

(2011) Véronique Pons et al.   HUMAN MUTATION

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Exome Sequencing,ANGPTL3Mutations, and Familial Combined Hypolipidemia

(2010) Kiran Musunuru et al.   NEW ENGLAND JOURNAL OF MEDICINE

U1 snRNA mis-binding: a new cause of CMT1B

(2009) Hervé Crehalet et al.   NEUROGENETICS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia

(2008) Mohamed Najah et al.   CLINICA CHIMICA ACTA

Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases

(2008) Laurence Chardon et al.   EUROPEAN JOURNAL OF PEDIATRICS

Abetalipoproteinemia: two case reports and literature review

(2008) Rola Zamel et al.   Orphanet Journal of Rare Diseases