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Oncogene8:2879-2887(1993) [PubMed] [Europe PMC] [Abstract]

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"The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2."
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"The finished DNA sequence of human chromosome 12."
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Submitted (2005-07) to the EMBL/GenBank/DDBJ databases

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

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"Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2."
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Nat. Genet.13:189-194(1996) [PubMed] [Europe PMC] [Abstract]

"Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia."
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Hum. Mutat.12:137-137(1998) [PubMed] [Europe PMC] [Abstract]

"Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2."
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Hum. Mol. Genet.9:1227-1237(2000) [PubMed] [Europe PMC] [Abstract]

"Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families."
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Am. J. Med. Genet.98:298-302(2001) [PubMed] [Europe PMC] [Abstract]

"Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia."
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N. Engl. J. Med.345:325-334(2001) [PubMed] [Europe PMC] [Abstract]

"Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia."
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J. Med. Genet.40:865-871(2003) [PubMed] [Europe PMC] [Abstract]

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. , Raeisaenen-Sokolowski A. , Laitinen T. , Morrell N.W. , Trembath R.C.
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"Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France."
French Rendu-Osler network , Lesca G. , Plauchu H. , Coulet F. , Lefebvre S. , Plessis G. , Odent S. , Riviere S. , Leheup B. , Goizet C. , Carette M.-F. , Cordier J.-F. , Pinson S. , Soubrier F. , Calender A. , Giraud S.
Hum. Mutat.23:289-299(2004) [PubMed] [Europe PMC] [Abstract]

"Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations."
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Hum. Mutat.25:320-320(2005) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype."
Bossler A.D. , Richards J. , George C. , Godmilow L. , Ganguly A.
Hum. Mutat.27:667-675(2006) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia."
Argyriou L. , Twelkemeyer S. , Panchulidze I. , Wehner L.E. , Teske U. , Engel W. , Nayernia K.
Int. J. Mol. Med.17:655-659(2006) [PubMed] [Europe PMC] [Abstract]

"Update on molecular diagnosis of hereditary hemorrhagic telangiectasia."
Richards-Yutz J. , Grant K. , Chao E.C. , Walther S.E. , Ganguly A.
Hum. Genet.128:61-77(2010) [PubMed] [Europe PMC] [Abstract]