1Berg J,Porteous M,Reinhardt D,et al.Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotype caused by endoglin and ALK1 mutations[].Journal of Medical Genetics.2003
2Johnson DW,Berg JN,Baldwin MA,et al.Mutations in the activin receptor-like kinase 1 gene in herediary haemorrhagic telangiectasia type 2[].Nature Genetics.1996
3Oh SP,Seki T,Goss KA,et al.Activin receptor-like kinase 1 modulates transforming growth factor-beta 1 signaling in the regulation of angiogenesis[].Proceedings of the National Academy of Sciences of the United States of America.2001
4Li DY,Sorensen LK,Brooke BS,et al.Defective angiogenesis in mice lacking endoglin[].Science.1999
5Shovlin CL,Guttmacher AE,Buscarini E,et al.Diagnostic criteria for hereditary haemorrhagic telangiectasia ( Rendu-Osler-Weber syndrome)[].American Journal of Medical Genetics.2000
6Johnson DW,Berg JN,Baldwin MA,et al.Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2[].Nature Genetics.1996
7Trembata RC,Thomson JR,Machado RD,et al.Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary haemorrhagic telangiectasia[].The New England Journal of Medicine.2001
8Abdalla SA,Geisthoff UW,Bonneau D,et al.Visceral manifestations in hereditary haemorrhagic telangiectasia type 2[].Journal of Medical Genetics.2003
9Abdalla SA,Cymerman U,Johnson RW,et al.Disease-associated mutations in conserved residues of ALK1 kinase domain[].European Journal of Human Genetics.2003
10Berg JN,Gallione CJ,Stenzel TT,et al.The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary haemorrhagic telangiectasia type 2[].The American Journal of Human Genetics.1997
6[1]Berg JN,Gallione CJ,Stenzel TT,et al.The activin receptor-ike kinase 1 gene:genomie structure and mutations in hereditary haemorrhagic telangiectasia type 2.Am J Hum Genet,1997,61:60-67.
7[2]Kjeldsen AD,Brusgaard K,Poulsen L,et al.Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectnsia in two large Danish families.Am J Med Genet,2001,98:298-302.
8[3]Abdalla SA,Pece-Barbara N,Vera S,et al.Analysis of ALK-1 and endoglin in newboms from families with hereditary haemorrhagic telangiectasia type 2.Hum Mol Genet,2000,9:1227-1237.
9[8]Olifieri C,Mira E,Delu G,et al.Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemon-hagic telangiectasia.J Med Genet,2002,39:E39.
10[9]M.Gallitelli,G.Pasculli,T.Fiore,et al.Emergencies in hereditary haemorrhagic telangiectasia,QJM,2006,99(1):15-22.
