Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region

被引：28

作者：

Davies, SJ

Wise, C

Venkatesh, B

Mirza, G

Jefferson, A

Volpi, EV

Ragoussis, J

机构：

[1] UCL, Dept Biol, Div Med Mol Genet, London WC1E 6BN, England

[2] Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

[3] Texas Scottish Rite Hosp Children, Sarah M & Charles E Seay Ctr Musculoskeletal Res, Dallas, TX 75219 USA

[4] Natl Univ Singapore, Inst Mol & Cell Biol, Singapore 117548, Singapore

来源：

CYTOGENETIC AND GENOME RESEARCH | 2004年 / 105卷 / 01期

关键词：

D O I：

10.1159/000078008

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Orofacial clefting (OFC) is a common congenital malformation. Here we report the refinement of three translocation breakpoints of patients exhibiting OFC within the 6p24 region, and the isolation and characterisation of novel genes, one of which is directly disrupted by the translocation breakpoint of a patient. The gene has been characterized and orthologues identified in bovine, murine and pufferfish. Copyright (C) 2003 S. Karger AG, Basel.

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页码：47 / 53

页数：7

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