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

S. J. Davies, C. Wise, B. Venkatesh, G. Mirza, A. Jefferson, E. V. Volpi, J. Ragoussis

Research output: Contribution to journalArticlepeer-review

27 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)47-53
Number of pages7
JournalCytogenetic and Genome Research
Volume105
Issue number1
DOIs
StatePublished - 2004

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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