A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family.
about
A novel frameshift mutation in CX46 associated with hereditary dominant cataracts in a Chinese family.Cataract-causing mutation of human connexin 46 impairs gap junction, but increases hemichannel function and cell deathIdentification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia CongenitaConnexin mutants and cataractsA novel insertional mutation in the connexin 46 (gap junction alpha 3) gene associated with autosomal dominant congenital cataract in a Chinese family.Human diseases associated with connexin mutations.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Cataract-associated Connexin 46 Mutation Alters Its Interaction with Calmodulin and Function of Hemichannels.
P2860
Q30402445-6224114E-5940-4AAB-91A5-DB38F5F0D410Q34982845-847FFD53-C2D7-497B-A12E-3B7ADA6812F7Q35647747-E679BA5F-B855-4369-B8F0-0E705DF1E221Q36763879-E5DDD6EB-B387-4477-8761-C170F223FE6DQ36765767-A40CA9FB-88AD-42C1-8796-8A2C2D151C12Q39273628-7AF7FC3B-030F-4C65-B807-BE2E875E05E7Q39370800-1E603500-F943-412C-83CC-2A71087DE1A5Q47212771-5AB82F60-FA88-43E2-8D90-A8E4DA87CAAB
P2860
A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family.
description
2012 nî lūn-bûn
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2012年の論文
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2012年論文
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2012年論文
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2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
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name
A novel mutation in GJA3 assoc ...... act in a large Chinese family.
@ast
A novel mutation in GJA3 assoc ...... act in a large Chinese family.
@en
type
label
A novel mutation in GJA3 assoc ...... act in a large Chinese family.
@ast
A novel mutation in GJA3 assoc ...... act in a large Chinese family.
@en
prefLabel
A novel mutation in GJA3 assoc ...... act in a large Chinese family.
@ast
A novel mutation in GJA3 assoc ...... act in a large Chinese family.
@en
P2093
P2860
P1433
P1476
A novel mutation in GJA3 assoc ...... act in a large Chinese family.
@en
P2093
P2860
P304
P577
2012-07-26T00:00:00Z