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Items: 2

1.

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

Harrison RE, Flanagan JA, Sankelo M, Abdalla SA, Rowell J, Machado RD, Elliott CG, Robbins IM, Olschewski H, McLaughlin V, Gruenig E, Kermeen F, Halme M, Räisänen-Sokolowski A, Laitinen T, Morrell NW, Trembath RC.

J Med Genet. 2003 Dec;40(12):865-71. Erratum in: J Med Genet. 2004 Jul;41(7):576.

2.

Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations.

Ricard N, Bidart M, Mallet C, Lesca G, Giraud S, Prudent R, Feige JJ, Bailly S.

Blood. 2010 Sep 2;116(9):1604-12. doi: 10.1182/blood-2010-03-276881. Epub 2010 May 25.

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