Promoter mutations of myocilin gene in Japanese patients with open angle glaucoma including normal tension glaucoma

The CACCC motif, transcription regulator in β-like globin genes, bridges the two repeats [5[variant prime]CAGCCC CAC]C[C AGCC(T[arrow right]C)CAC]. [...]this mutation seems to affect the expression of the myocilin gene. No homozygosity for the -153 C was detected. [...]the -153 C mutation is very l...

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Bibliographic Details
Published inBritish journal of ophthalmology Vol. 84; no. 9; p. 1075
Main Authors SUZUKI, RYO, HATTORI, YUKIO, OKANO, KOZUE
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group LTD 01.09.2000
Subjects
Chromosomes, Human, Pair 1 - genetics
Genes
Glaucoma
Glaucoma, Open-Angle - ethnology
Glaucoma, Open-Angle - genetics
Humans
Japan - ethnology
Letters to the Editor
Mutation
Mutation - genetics
Promoter Regions, Genetic - genetics
Japan
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Summary:The CACCC motif, transcription regulator in β-like globin genes, bridges the two repeats [5[variant prime]CAGCCC CAC]C[C AGCC(T[arrow right]C)CAC]. [...]this mutation seems to affect the expression of the myocilin gene. No homozygosity for the -153 C was detected. [...]the -153 C mutation is very likely to be disease related.
Bibliography:SourceType-Other Sources-1
ObjectType-Article-2
content type line 63
ObjectType-Correspondence-1
ISSN:0007-1161
1468-2079
DOI:10.1136/bjo.84.9.1075c