The genomic structure, chromosome location, and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephaly.
作者： M. Muenke , E. Roessler , Y. Du , A. Glinka , A. Dutra
DOI: 10.1159/000015618
关键词:
摘要: Holoprosencephaly (HPE) is the most common developmental defect of brain and face in humans. Here we report analysis human ortholog dkk-1 as a candidate gene for HPE. We determined genomic structure DKK1 mapped it to chromosome 10q11.2. Functional four missense mutations identified HPE patients revealed preserved activity head induction assays frogs suggesting limited role this pathogenesis.
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