SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract-Reference-Cited by-同舟云学术

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract

Published:2015-03-25 Issue:12 Volume:23 Page:1627-1633
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Evers Christina,Paramasivam Nagarajan,Hinderhofer Katrin,Fischer Christine,Granzow Martin,Schmidt-Bacher Annette,Eils Roland,Steinbeisser Herbert,Schlesner Matthias,Moog Ute

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201546.pdf

Reference79 articles.

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2. Hansen L, Mikkelsen A, Nurnberg P et al: Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci 2009; 50: 3291–3303.

3. Berry V, Francis P, Reddy MA et al: Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. Am J Hum Genet 2001; 69: 1141–1145.

4. Billingsley G, Santhiya ST, Paterson AD et al: CRYBA4, a novel human cataract gene, is also involved in microphthalmia. Am J Hum Genet 2006; 79: 702–709.

5. Heon E, Priston M, Schorderet DF et al: The gamma-crystallins and human cataracts: a puzzle made clearer. Am J Hum Genet 1999; 65: 1261–1267.

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