Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome

被引：72

作者：

Lench, NJ

Telford, EAR

High, AS

Markham, AF

Wicking, C

Wainwright, BJ

机构：

[1] LEEDS DENT INST, DIV DENT SURG, LEEDS LS2 9LU, W YORKSHIRE, ENGLAND

[2] UNIV QUEENSLAND, CTR CELLULAR & MOL BIOL, ST LUCIA, QLD 4072, AUSTRALIA

来源：

HUMAN GENETICS | 1997年 / 100卷 / 5-6期

基金：

英国惠康基金;

关键词：

D O I：

10.1007/s004390050541

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mutations in the human patched gene have recently been detected in patients with naevoid basal cell carcinoma syndrome. We have characterised a further 5 novel germ line mutations in patients presenting with multiple odontogenic keratocysts. Four mutations cause premature stop codons and one mutation results in an amino-acid substitution towards the carboxyl terminus of the predicted patched protein. No obvious genotype-phenotype correlations could be interpreted, consistent with previous studies.

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收藏

页码：497 / 502

页数：6

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