PAX6 analysis of two sporadic patients from southern China with classic aniridia.

PAX6 analysis of two sporadic patients from southern China with classic aniridia.

Item
http://www.wikidata.org/entity/Q36182921
Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma.Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophyC278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients.Proteotoxic Stress Desensitizes TGF-beta Signaling Through Receptor Downregulation in Retinal Pigment Epithelial Cells.Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy.Genetic variations in Bestrophin‑1 and associated clinical findings in two Chinese patients with juvenile‑onset and adult‑onset best vitelliform macular dystrophy.FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation.Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract
P2860

PAX6 analysis of two sporadic patients from southern China with classic aniridia.

Item
http://www.wikidata.org/entity/Q36182921
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
PAX6 analysis of two sporadic patients from southern China with classic aniridia.
@ast
PAX6 analysis of two sporadic patients from southern China with classic aniridia.
@en
type
label
PAX6 analysis of two sporadic patients from southern China with classic aniridia.
@ast
PAX6 analysis of two sporadic patients from southern China with classic aniridia.
@en
prefLabel
PAX6 analysis of two sporadic patients from southern China with classic aniridia.
@ast
PAX6 analysis of two sporadic patients from southern China with classic aniridia.
@en
P1433
P1476
P2093
P2860
P304
P31
P478
P577
P698
P921
P932
P1433
P1476
PAX6 analysis of two sporadic patients from southern China with classic aniridia
@en
P2093
P2860
P304
P31
P478
P577
P698
P921
P932