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A Sonic Hedgehog Missense Mutation Associated with Holoprosencephaly Causes Defective Binding to GAS1

Holoprosencephaly (HPE) is a common birth defect predominantly affecting the forebrain and face and has been linked to mutations in the sonic hedgehog (SHH) gene. HPE is genetically heterogeneous, and clinical presentation represents a spectrum of phenotypes. We have previously shown that Gas1 encod...

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Detalles Bibliográficos
Main Authors: Martinelli, David C., Fan, Chen-Ming
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Biochemistry and Molecular Biology 2009
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2740538/
https://ncbi.nlm.nih.gov/pubmed/19478089
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.C109.011957
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