Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations.
about
Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.A nonsense PAX6 mutation in a family with congenital aniridia.11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation.Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family.Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract
P2860
Q35047778-78DDB22A-A557-412B-BF5C-D569D445FC10Q36675879-43C149B1-C492-4450-85B4-6E27CB524A47Q37058029-2098903C-D7A7-4255-B4E1-937D989453EDQ37525590-A1D90EBE-F111-4C5E-BF9A-9E3DA08EE2BEQ43077860-F4DFBADD-99A7-446E-93D4-22A4267D5002Q54964054-F9A813DA-C83A-46DD-B6D5-B40E2A553965Q55411135-03970F08-F0C3-429F-A58B-0D64B52E4B6EQ58752947-A7FCA612-8A48-4B00-90BD-5BDC9E77515F
P2860
Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Molecular analysis of the PAX6 ...... ation of four novel mutations.
@ast
Molecular analysis of the PAX6 ...... ation of four novel mutations.
@en
type
label
Molecular analysis of the PAX6 ...... ation of four novel mutations.
@ast
Molecular analysis of the PAX6 ...... ation of four novel mutations.
@en
prefLabel
Molecular analysis of the PAX6 ...... ation of four novel mutations.
@ast
Molecular analysis of the PAX6 ...... ation of four novel mutations.
@en
P2093
P2860
P1433
P1476
Molecular analysis of the PAX6 ...... cation of four novel mutations
@en
P2093
Hyojin Chae
Man Soo Kim
Myungshin Kim
Shin Hae Park
Yonggoo Kim
P2860
P304
P577
2012-02-19T00:00:00Z