Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.
about
Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.Novel mutations in CRYGC are associated with congenital cataracts in Chinese families.Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.Use of high-throughput targeted exome sequencing in genetic diagnosis of Chinese family with congenital cataract.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Comparison of effect of gamma ray irradiation on wild-type and N-terminal mutants of αA-crystallin.Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.
P2860
Q30385860-964B209A-C0B6-43B6-9375-0B1339FB0048Q33671000-979D37B1-4062-4334-8E2A-3D136D6AD1CDQ35921198-71DC3EBD-BF76-494B-A27E-60E6648BC9C5Q36951189-E251676C-7A91-429E-8686-988DFF1FEF75Q39370800-9C787BF6-D251-49EB-8373-A2975BA1AF9BQ41864073-8DB11B1E-8619-47B1-B85F-AFB996663702Q49540439-C61DC54A-906A-4E1C-B708-F44375F1683A
P2860
Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Pathogenic mutations in two fa ...... d with whole-exome sequencing.
@ast
Pathogenic mutations in two fa ...... d with whole-exome sequencing.
@en
type
label
Pathogenic mutations in two fa ...... d with whole-exome sequencing.
@ast
Pathogenic mutations in two fa ...... d with whole-exome sequencing.
@en
prefLabel
Pathogenic mutations in two fa ...... d with whole-exome sequencing.
@ast
Pathogenic mutations in two fa ...... d with whole-exome sequencing.
@en
P2093
P2860
P1433
P1476
Pathogenic mutations in two fa ...... ed with whole-exome sequencing
@en
P2093
Byung Joo Lee
Hiroshi Doi
Jeong Hun Kim
Kiyomi Nishiyama
Mitsuko Nakashima
Naomichi Matsumoto
Noriko Miyake
Toshinobu Miyamoto
Young Suk Yu
Yukiko Kondo
P2860
P304
P577
2013-02-18T00:00:00Z