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CHST6 gene
Known as:
CARBOHYDRATE SULFOTRANSFERASE 6
, CHST6
, CORNEAL N-ACETYLGLUCOSAMINE-6-SULFOTRANSFERASE
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National Institutes of Health
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Related topics
Related topics
2 relations
CHST6 protein, human
Macular dystrophy, corneal type 1
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies
J. González-Rodríguez
,
A. Ramirez-Miranda
,
S. Mota
,
J. Zenteno
Graefe's Archive for Clinical and Experimental…
2014
Corpus ID: 1419987
ObjectivesThe purpose of our study was to describe the results of molecular screening of TGFBI, CHST6, and GSN genes in a group…
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2012
2012
TGFBI and CHST6 gene analysis in Chinese stromal corneal dystrophies.
Yin Li
,
Tuo Li
,
Xiu-sheng Song
,
Jia-zhang Li
,
Qingsong Wu
,
Hong-yan Li
International Journal of Ophthalmology
2012
Corpus ID: 43144232
AIM To investigate whether mutations in TGFBI gene or CHST6 gene correlated with stromal corneal dystrophies (CD) in 8 Chinese…
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2009
2009
Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6
X. Dang
,
Qingguo Zhu
,
+8 authors
Yanhua Qi
Molecular Vision
2009
Corpus ID: 17155378
Purpose To identify mutations in the carbohydrate sulfotransferase gene (CHST6) for a Chinese family with macular corneal…
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2009
2009
Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6
Afia Sultana
,
G. Klintworth
,
E. Thonar
,
G. Vemuganti
,
C. Kannabiran
Molecular Vision
2009
Corpus ID: 1688311
Purpose To determine the immunophenotypes of macular corneal dystrophy (MCD) in Indian patients and to correlate them with…
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2005
2005
Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.
M. El-ashry
,
M. M. Abd El-Aziz
,
+7 authors
N. Ebenezer
American journal of ophthalmology-glaucoma
2005
Corpus ID: 12879605
2004
2004
Novel mutations in the CHST6 gene causing macular corneal dystrophy
C. Abbruzzese
,
U. Kuhn
,
F. Molina
,
P. Rama
,
M. D. Luca
Clinical Genetics
2004
Corpus ID: 32667901
Macular corneal dystrophy (MCD) is an autosomal recessive disease characterized by corneal opacities and caused by mutations in a…
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2003
2003
Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity.
Nobuko Iida-Hasegawa
,
A. Furuhata
,
+4 authors
A. Kanai
Investigative Ophthalmology and Visual Science
2003
Corpus ID: 5015588
PURPOSE Macular corneal dystrophy (MCD) is an autosomal recessive disorder leading to severe visual impairment. The carbohydrate…
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2003
2003
Identification of Novel Mutations of the CHST6 Gene in Vietnamese Families Affected With Macular Corneal Dystrophy in Two Generations
N. T. Ha
,
H. M. Chau
,
+6 authors
A. Kanai
Cornea
2003
Corpus ID: 25039164
Purpose. To report the clinical and genetic findings of Vietnamese families affected with macular corneal dystrophy (MCD) in 2…
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Highly Cited
2002
Highly Cited
2002
Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.
M. El-ashry
,
M. M. Abd El-Aziz
,
+9 authors
N. Ebenezer
Investigative Ophthalmology and Visual Science
2002
Corpus ID: 8230314
PURPOSE Macular corneal dystrophy (MCD) is a rare corneal dystrophy that is characterized by abnormal deposits in the corneal…
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Highly Cited
2000
Highly Cited
2000
Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene
T. Akama
,
K. Nishida
,
+14 authors
M. Fukuda
Nature Genetics
2000
Corpus ID: 25547752
Macular corneal dystrophy (MCD; MIM 217800) is an autosomal recessive hereditary disease in which progressive punctate opacities…
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