Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin.
Mol Syndromol. 2012 Jun;3(1):6-13. doi: 10.1159/000338975. Epub 2012 Jun 13.
Mol Syndromol. 2012.
PMID: 22855649
Free PMC article.