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Pubmed ID :14684682
Publication Date : //

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.


Mutations of the transforming growth factor beta (TGFbeta) receptor components ENDOGLIN and ALK-1 cause the autosomal dominant vascular disorder hereditary haemorrhagic telangiectasia (HHT). Heterozygous mutations of the type II receptor BMPR2 underlie familial primary pulmonary hypertension.

Authors : Harrison R E , Flanagan J A , Sankelo M , Abdalla S A , Rowell J , Machado R D , Elliott C G , Robbins I M , Olschewski H , McLaughlin V , Gruenig E , Kermeen F , Halme M , Räisänen-Sokolowski A , Laitinen T , Morrell N W , Trembath R C ,

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