A 16.7 kb deletion in Sipa1l3 is associated with juvenile cataract in mice
Author:
Funder
University of Nebraska-Lincoln
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://link.springer.com/article/10.1007/s00335-017-9720-9/fulltext.html
Reference11 articles.
1. Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263–265. doi: 10.1093/bioinformatics/bth457
2. Cargill EJ, Happold TR, Bertani G, Rocha J, Lou MF, Pomp D, Nielsen MK (2001) Localization of a recessive juvenile cataract mutation to proximal chromosome 7 in mice. Hum Hered 52:77–82
3. Evers C et al (2015) SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. Eur J Hum Genet 23:1627–1633. doi: 10.1038/ejhg.2015.46
4. Greenlees R et al (2015) Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization. Hum Mol Genet 24:5789–5804. doi: 10.1093/hmg/ddv298
5. Jones LD, Nielsen MK, Britton RA (1992) Genetic variation in liver mass, body mass, and liver:body mass in mice. J Anim Sci 70:2999–3006
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1. Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes;Human Genetics;2018-09-05
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