Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome-Reference-Cited by-同舟云学术

Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome

Published:2016-02-04 Issue:1 Volume:17 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Khan Muzammil Ahmad,Mohan Sumitra,Zubair Muhammad,Windpassinger Christian

Funder

Higher Education Commission, Pakistan (PK)

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-016-0271-9

Reference29 articles.

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2. Zaghloul NA, Katsanis N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest. 2009;119:428–37.

3. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet. 1999;36:437–46.

4. Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, et al. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. Am J Hum Genet. 2001;68:606–16.

5. M’hamdi O, Ouertani I, Maazoul F, Chaabouni H. Prevalence of Bardet-Biedl syndrome in Tunisia. J Community Genet. 2011;2:97–9.

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