A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family

Publisher： Karger

E-ISSN： 1661-8777|3|6|255-261

ISSN： 1661-8769

Source： Molecular Syndromology, Vol.3, Iss.6, 2012-12, pp. : 255-261

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