1999•The American Journal of Human GeneticsOpen access

Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia

Ivo Quack, Birgitta Vonderstraß, Michael Stock, A.S Aylsworth, Achim Becker, L A Brueton, Peter J. Lee, F. Majewski, JB Mulliken, Mohnish Suri, Martin Zenker, Stefan Mundlos, F Otto

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Key concepts: Cleidocranial Dysplasia, Missense mutation, Frameshift mutation, Genetics, Haploinsufficiency, Biology, Brachydactyly, Mutation

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Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia — Research Paper | ScholarLens