在一个患有常染色体显性遗传性视网膜色素变性的德系家族中，视紫红质基因第255/256密码子处出现复发性3碱基对缺失。 - Suppr

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超能文献

Recurrent 3-bp deletion at codon 255/256 of the rhodopsin gene in a German pedigree with autosomal dominant retinitis pigmentosa.

作者信息

Artlich A, Horn M, Lorenz B, Bhattacharga S, Gal A

出版信息

Am J Hum Genet. 1992 Apr;50(4):876-8.

PMID:1550134

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1682649/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1768/1682649/a304c368828f/ajhg00075-0220-a.jpg

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Recurrent 3-bp deletion at codon 255/256 of the rhodopsin gene in a German pedigree with autosomal dominant retinitis pigmentosa.在一个患有常染色体显性遗传性视网膜色素变性的德系家族中，视紫红质基因第255/256密码子处出现复发性3碱基对缺失。

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本文引用的文献

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Molecular characterization of a spontaneously generated new allele at a VNTR locus: no exchange of flanking DNA sequence.一个可变数目串联重复序列（VNTR）位点自发产生的新等位基因的分子特征：侧翼DNA序列无交换。

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Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.可通过聚合酶链反应进行分型的大量人类DNA多态性类别。

Am J Hum Genet. 1989 Mar;44(3):388-96.

Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.常染色体显性遗传性视网膜色素变性患者视紫红质基因的突变

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