A Recurrent CEP120 Mutation in Jeune Asphyxiating Thoracic Dystrophy Expands the Role of Centriolar Proteins in Skeletal Ciliopathies
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A Recurrent CEP120 Mutation in Jeune Asphyxiating Thoracic Dystrophy Expands the Role of Centriolar Proteins in Skeletal Ciliopathies
Jon Moulton Fri Oct 31, 2014 11:25 am
Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, Holder I, Superti-Furga A, UK10 K consortium, Mitchison HM, Almoisheer A, Alamro R, Alshiddi T, Alzahrani F, Beales PL, Alkuraya FS. A Recurrent CEP120 Mutation in Jeune Asphyxiating Thoracic Dystrophy Expands the Role of Centriolar Proteins in Skeletal Ciliopathies. Hum Mol Genet. 2014;[Epub ahead of print] doi:10.1093/hmg/ddu555
Jon Moulton- Posts : 5721
Join date : 2010-03-12
Age : 62
Location : Philomath, Oregon, USA -
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