Hui Lin

发表

A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family.

Yanhua Qi, J. Hejtmancik, Hui Lin, 2007, Molecular vision.

Autosomal-Dominant Cerulean Cataract in a Chinese Family Associated with Gene Conversion Mutation in Beta-B2-Crystallin

Yanhua Qi, Shangzhi Huang, Hui Lin, 2009, Ophthalmic Research.

A new congenital nuclear cataract caused by a missense mutation in the gammaD-crystallin gene (CRYGD) in a Chinese family.

Yanhua Qi, Shangzhi Huang, Hui Lin, 2005, Molecular vision.

Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families

Ting Liang, Liming Zhao, Yanhua Qi, 2009, Molecular vision.

A deletion mutation in the βA1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family

Y. Li, Yanhua Qi, Shangzhi Huang, 2003, Human Genetics.

Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery

K. McBride, Gloria A. Zender, S. Fitzgerald-Butt, 2022, PLoS genetics.

A Novel MIP Gene Mutation Analysis in a Chinese Family Affected with Congenital Progressive Punctate Cataract

Yanhua Qi, J. Hejtmancik, Hui Lin, 2014, PloS one.

A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I

Chunmei Zhang, Liming Zhao, Yanhua Qi, 2009, Molecular vision.

A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome

Yanhua Qi, Hui Lin, N. Zhou, 2008, Molecular vision.

Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6

Z. Wang, Ting Liang, Yanhua Qi, 2009, Molecular vision.

The Arg233Lys AQP0 Mutation Disturbs Aquaporin0-Calmodulin Interaction Causing Polymorphic Congenital Cataract

Binbin Wang, Shanshan Hu, Yanhua Qi, 2012, PloS one.

Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation

Xiang-min Xu, Hui Lin, X. Shang, 2011, Journal of Human Genetics.

An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI

Liming Zhao, Yanhua Qi, Hui Lin, 2008, Molecular vision.

A new locus for inherited nuclear cataract mapped to the long arm of chromosome 1.

Yanhua Qi, Shangzhi Huang, Hui Lin, 2007, Molecular vision.

Autosomal-Dominant Cerulean Cataract in a Chinese Family Associated with Gene Conversion Mutation in Beta-B2-Crystallin

Yanhua Qi, Shangzhi Huang, Hui Lin, 2009, Ophthalmic Research.