Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: Failure of the dominant and recessive dichotomy

Molecular Genetics and Genomic Medicine

Volumn 4, Issue 3, 2016, Pages 283-291

  Fahed, Akl C ^a,b   Khalaf, Ruby ^a   Salloum, Rony ^a   Andary, Rabih R ^a   Safa, Raya ^a   El Rassy, Inaam ^a   Moubarak, Elie ^c   Azar, Sami T ^a   Bitar, Fadi F ^a   Nemer, Georges ^a  

^a AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c National LDL Apheresis Center   (Lebanon)

Author keywords

Familial Hypercholesterolemia; Founder mutation; LDLR; LDLRAP1

Indexed keywords

EID: 85013120241     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.203     Document Type: Article

References (41)

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