位置：成果数据库 > 期刊 > 期刊详情页
PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1
  • ISSN号：1090-0535
  • 期刊名称：Molecular Vision
  • 时间：0
  • 页码：1146-1153
  • 语言：英文
  • 相关项目：眼科学
作者： Wang, Panfeng|Guo, Xiangming|Wang, Juan|Zhang, Qingjiong|Li, Shiqiang|Xiao, Xueshan|
同期刊论文项目
眼科学
期刊论文 36
同项目期刊论文
Common variants in chromosome 4q25 are associated with myopia in Chinese adults
High myopia is not associated with single nucleotide polymorphisms in the COL 2A 1 gene in the Chine
Nonsyndromic High Myopia in a Chinese Family Mapped to MYP1 Linkage Confirmation and Phenotypic Char
Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia
Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A muta
Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa
mtDNA m.3635G > A may be classified as a common primary mutation for Leber hereditary optic neuropat
Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia
Mutations in RPGR and RP2 of Chinese Patients with X-Linked Retinitis Pigmentosa
Sequence variations of GRM6 in patients with high myopia
An evaluation of OPTC and EPYC as candidate genes for high myopia
Iris Hyperpigmentation in a Chinese Family With Ocular Albinism and the GPR143 Mutation
Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma
Evaluation of MFRP as a candidate gene for high hyperopia
Mitochondrial DNA mutation m.3635G > A may be associated with Leber hereditary optic neuropathy in C
Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma
Association of the single nucleotide polymorphisms in the extracellular matrix metalloprotease-9 gen
Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amauro
KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular
Mutation spectrum of PAX6 in Chinese patients with aniridia
早期生长因子1和晶状体蛋白α-A基因多肽与近视的关联性研究
Replication study of significant single nucleotide polymorphisms associated with myopia from two gen
Mutation analysis of 12 genes in Chinese families with congenital cataracts
Replication Study Supports CTNND2 as a Susceptibility Gene for High Myopia
Mutational screening of six genes in Chinese patients with congenital cataract and microcornea
Evaluation of EGR1 as a candidate gene for high myopia
Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular alb
High myopia is not associated with the SNPs in the TGIF, Lumican, TGFB1, and HGF genes
Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber';s hereditary
Mitochondrial DNA Haplogroups M7b1 '; 2 and M8a Affect Clinical Expression of Leber Hereditary Optic
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a China family
Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis
Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated p