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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
Ben-Salem, S., Begum, M.A., Ali, B.R., Al-Gazali, L.Year:
2012
Language:
english
Journal:
Molecular Syndromology
DOI:
10.1159/000345653
File:
PDF, 2.27 MB
english, 2012