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Items: 4

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.

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

Abdalla SA, Cymerman U, Johnson RM, Deber CM, Letarte M.

Eur J Hum Genet. 2003 Apr;11(4):279-87.

3.

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
4.

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.

McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk JM, Stevenson DA, Gedge F, Bayrak-Toydemir P.

Clin Genet. 2011 Apr;79(4):335-44. doi: 10.1111/j.1399-0004.2010.01596.x. Epub 2010 Dec 16.

PMID:
21158752

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