The web links shown below are existing online resources for ENG 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
Gene and Protein Links
- ENG at Entrez Gene
- ENG gDNA: NC_000009.10
- ENG mRNA: NM_001114753.1
- ENG protein: NP_001108225.1
- ENG at HPRD and Uniprot
- 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.