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Localisation of the human blue cone pigment gene to chromosome band 7q31.3-32.

作者信息

Fitzgibbon J, Appukuttan B, Gayther S, Wells D, Delhanty J, Hunt D M

机构信息

Department of Molecular Genetics, University of London, UK.

出版信息

Hum Genet. 1994 Jan;93(1):79-80. doi: 10.1007/BF00218919.

DOI:10.1007/BF00218919
PMID:8270261
Abstract

Blue cone pigment (BCP) is one of three types of cone photoreceptors responsible for normal colour vision. In this study, the BCP gene has been localised to chromosome 7q31.3-32 by fluorescent in situ hybridisation of cosmid clones containing the gene. This is consistent with previous mapping of the BCP gene to chromosome 7q31-35.

摘要

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本文引用的文献

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A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.一个常染色体显性遗传性视网膜色素变性家族中视紫红质基因的3个碱基对缺失。
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Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis.通过GC夹变性梯度凝胶电泳鉴定与色素性视网膜炎相关的新型视紫红质突变
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