Varaico: Literature-Extracted Genetic Variants

Gene:CHST6
Variant:p.L370L
Back to variants list

CHST6

NM_021615.5:p.L370L

Associated Papers

Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophy.

Liu Z et al.

Cornea, 2010

Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland.

Liu NP et al.

Molecular Vision, 2006

CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review.

Klintworth GK et al.

Molecular Vision, 2006

Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship.

Liu NP et al.

American Journal of Ophthalmology, 2005

[Analysis of gene mutation in Chinese patients with Reis-Bücklers corneal dystrophy].

Tian X et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005

Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.

El-Ashry MF et al.

American Journal of Ophthalmology, 2005

Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.

El-Ashry MF et al.

Investigative Ophthalmology & Visual Science, 2002

Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland.

Liu NP et al.

Molecular Vision, 2000

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."