Publications:

Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family.

Annals Of Translational Medicine

Huang, Yanxia Y; Yuan, Lamei L; Cao, Yanna Y; Tang, Renhong R; Xu, Hongbo H; Tang, Ziqian Z; Deng, Hao H

Publication Date: 2021-04

Variant appearance in text: CHST6: Y358D

PubMed Link: 33987320

Variant Present in the following documents:

• atm-09-08-622.pdf

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A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy.

Aging

Zhang, Jing J; Wu, Dan D; Li, Yue Y; Fan, Yidan Y; Dai, Yiqin Y; Xu, Jianjiang J

Publication Date: 2019-02-04

Variant appearance in text: CHST6: 1072T>G; Y358D

PubMed Link: 30716718

Variant Present in the following documents:

• aging-11-101807-s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CHST6: Y358D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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

Molecular Vision

Dang, Xiuhong X; Zhu, Qingguo Q; Wang, Li L; Su, Hong H; Lin, Hui H; Zhou, Nan N; Liang, Ting T; Wang, Zheng Z; Huang, Shangzhi S; Ren, Qiushi Q; Qi, Yanhua Y

Publication Date: 2009

Variant appearance in text: CHST6: Y358D

PubMed Link: 19365571

Variant Present in the following documents:

• Main text
• mv-v15-700.pdf

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The IC3D classification of the corneal dystrophies.

Cornea

Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK

Publication Date: 2008-12

Variant appearance in text: CHST6: 1072T>G

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

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