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Items: 5

1.

The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.

Berg JN, Gallione CJ, Stenzel TT, Johnson DW, Allen WP, Schwartz CE, Jackson CE, Porteous ME, Marchuk DA.

Am J Hum Genet. 1997 Jul;61(1):60-7.

2.

Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online.

Klaus DJ, Gallione CJ, Anthony K, Yeh EY, Yu J, Lux A, Johnson DW, Marchuk DA.

Hum Mutat. 1998;12(2):137.

PMID:
10694922
3.

Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2.

Abdalla SA, Pece-Barbara N, Vera S, Tapia E, Paez E, Bernabeu C, Letarte M.

Hum Mol Genet. 2000 May 1;9(8):1227-37.

PMID:
10767348
4.

Visceral manifestations in hereditary haemorrhagic telangiectasia type 2.

Abdalla SA, Geisthoff UW, Bonneau D, Plauchu H, McDonald J, Kennedy S, Faughnan ME, Letarte M.

J Med Genet. 2003 Jul;40(7):494-502.

5.

Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians.

Bayrak-Toydemir P, Mao R, Lewin S, McDonald J.

Genet Med. 2004 Jul-Aug;6(4):175-91. Review.

PMID:
15266205

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