Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family

Nadia Carstens; Susan Williams; Saadiah Goolam; Trevor Carmichael; Ming Sin Cheung; Stine Büchmann-Møller; Marc Sultan; Frank Staedtler; Chao Zou; Peter Swart; Dennis S. Rice; Arnaud Lacoste; Kim Paes; Michèle Ramsay; Stine Buchmann-Moller

doi:10.1186/s12881-016-0308-0

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Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family

Journal article

Open access

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Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family

Nadia Carstens, Susan Williams, Saadiah Goolam, Trevor Carmichael, Ming Sin Cheung, Stine Büchmann-Møller, Marc Sultan, Frank Staedtler, Chao Zou, Peter Swart, …

BMC medical genetics, Vol.17(1), pp.47-47

20/07/2016

DOI: https://doi.org/10.1186/s12881-016-0308-0

PMCID: PMC4955246

PMID: 27439461

Abstract

African

CHST6

Macular corneal dystrophy

Whole exome sequencing

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Title: Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family
Creators - without role: Nadia Carstens - University of the Witwatersrand
Susan Williams - University of the Witwatersrand
Saadiah Goolam - University of the Witwatersrand
Trevor Carmichael - University of the Witwatersrand
Ming Sin Cheung - Novartis
Stine Büchmann-Møller - Novartis
Marc Sultan - Novartis
Frank Staedtler - Novartis
Chao Zou - Novartis
Peter Swart - National Health Laboratory Service
Dennis S. Rice - Novartis
Arnaud Lacoste - Novartis
Kim Paes - Novartis
Michèle Ramsay - National Health Laboratory Service
Stine Buchmann-Moller - King Abdullah University of Science & Technology
Publication Details: BMC medical genetics, Vol.17(1), pp.47-47
Publisher: BioMed Central
Grant note: ; D43 TW008330 / ;
Identifiers: 9945724908331
Academic Unit: King Abdullah University of Science & Technology
Language: English
Resource Type: Journal article