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Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration

Article Abstract:

A developmental and progressive hereditary eye disorder that affects multiple tissues within the eye known as snowflake vitreoretinal degeneration (SVD) is studied. It is indicated that the KCNJ13 R162W mutation can cause SVD and vitreoretinal degeneration can arise through mutations in genes whose products are not structural components of the vitreous.

Author: Hejtmancik, J. Fielding, Jiao, Xiaodong, Anren Li, Sergeev, Yuri V., Ding, Xiaoyan, Sharma, Anil K., Chi-Chao Chan, Medina, Igor, Edwards, Albert O.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Causes of, Genetic aspects, Macular degeneration, Vitreous body

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Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (CMTX5)

Article Abstract:

The article highlights that missense mutations in the gene cause a syndromic form of peripheral neuropathy associated with sensorineural hearing loss and optic neuropathy with the help of the cochlear expression database.

Author: Jong-Won Kim, Shy, Michael E., Hee-Jin Kim, Kwang-Min Sohn, Krajewski, Karen M., Miok Hwang, June-Hee Park, Sue-Yon Jang, Hong-Hee Won, Byung-Ok Choi, Byoung-Joon Kim, Yeon-Lim Suh, Chang-Seok Ki, Soo-Youn Lee
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Pyrophosphates, Polyneuropathies

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Subjects list: Research, Gene mutations, Gene mutation
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