ACVRL1 References

The web links shown below are existing online resources for ACVRL1 and associated Hereditary Hemorrhagic Telangiectasia (HHT). Links to several review articles are given, as well as genome and protein links.

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Disease Information Links

• About HHT from HHT Foundation.org
• GeneReviews for HHT
• OMIM for ACVRL1 and HHT Type 2 (HHT2)

Gene and Protein Links

• ACVRL1 at Entrez Gene
• ACVRL1 gDNA: NC_000012.11
• ACVRL1 mRNA: NM_000020.2
• ACVRL1 protein: NP_000011.2
• ACVRL1 at HPRD and Uniprot

Peer-Reviewed Literature

• Bayrak-Toydemir P, McDonald J, Markewitz B, Lewin S, Miller F, Chou LS, Gedge F, Tang W, Coon H, Mao R. Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. Am J Med Genet A. 2006 Mar; 140(5):463-70.
• Prigoda NL, Savas S, Abdalla SA, Piovesan B, Rushlow D, Vandezande K, Zhang E, Ozcelik H, Gallie BL, Letarte M. Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations. J Med Genet. 2006 Sep;43(9):722-8.
• Richards-Yutz J, Grant K, Chao EC, Walther SE, Ganguly A. Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. Hum Genet. 2010 Apr;128(1):61-77.
• McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk JM, Stevenson DA, Gedge F, Bayrak-Toydemir P. Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. Clin Genet. 2011 Apr; 79(4):335-44.