Disease-associated mutations in conserved residues of ALK-1 kinase domain-Reference-Cited by-同舟云学术

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Disease-associated mutations in conserved residues of ALK-1 kinase domain

Published:2003-04 Issue:4 Volume:11 Page:279-287
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Abdalla Salma A,Cymerman Urszula,Johnson Rachel M,Deber Charles M,Letarte Michelle

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5200919.pdf

Reference33 articles.

1. Heutink P, Haitjema T, Breedveld GJ et al: Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity. J Med Genet 1994; 31: 933–936.

2. McAllister KA, Lennon F, Bowles-Biesecker B et al: Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype. J Med Genet 1994; 31: 927–932.

3. Berg JN, Guttmacher AE, Marchuk DA, Porteous ME : Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? J Med Genet 1996; 33: 256–257.

4. Pece N, Vera S, Cymerman U, White RI, Wrana JL, Letarte M : Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. J Clin Invest 1997; 100: 2568–2579.

5. Pece-Barbara N, Cymerman U, Vera S, Marchuk DA, Letarte M : Expression analysis of four endoglin missense mutations suggests haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1. Hum Mol Genet 1999; 8: 2171–2181.

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