Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are the most common hereditary causes of visual impairment in infants and children. Using homozygosity mapping, we narrowed down the critical region of the LCA3 locus to 3.8 Mb between markers D14S1022 and D14S1005. By direct Sa...

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Hlavní autoři: Wang, Hui, den Hollander, Anneke I., Moayedi, Yalda, Abulimiti, Abuduaini, Li, Yumei, Collin, Rob W.J., Hoyng, Carel B., Lopez, Irma, Bray, Molly, Lewis, Richard Alan, Lupski, James R., Mardon, Graeme, Koenekoop, Robert K., Chen, Rui
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Human Genetics 2009
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668010/
https://ncbi.nlm.nih.gov/pubmed/19268277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.02.005
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