Associated Papers
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
Spinelli L et al.
Journal of Medical Genetics, 2015
25527629 (PubMed )
Supplement: jmedgenet-2014-102803-s1.pdf
Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.
Alaa El Din F et al.
Plos One, 2015
Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.
Richards-Yutz J et al.
Human Genetics, 2010
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