New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia-Reference-Cited by-同舟云学术

New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia

Published:2018-01-31 Issue:1 Volume:8 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Elbitar Sandy^ORCID,Susan-Resiga Delia^ORCID,Ghaleb Youmna,El Khoury Petra,Peloso Gina,Stitziel Nathan,Rabès Jean-Pierre^ORCID,Carreau Valérie,Hamelin Josée,Ben-Djoudi-Ouadda Ali,Bruckert Eric,Boileau Catherine,Seidah Nabil G.,Varret Mathilde^ORCID,Abifadel Marianne

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-018-20281-9.pdf

Reference45 articles.

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2. Goldstein, J. L. & Brown, M. S. Familial hypercholesterolemia: pathogenesis of a receptor disease. Johns Hopkins Med. J. 143, 8–16 (1978).

3. Innerarity, T. L. et al. Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. Proc. Natl. Acad. Sci. USA 84, 6919–6923 (1987).

4. Abifadel, M. et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat. Genet. 34, 154–156 (2003).

5. Seidah, N. G. et al. The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation. Proc. Natl. Acad. Sci. USA 100, 928–933 (2003).

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