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Items: 5

1.
A Novel Splicing Mutation in the ACVRL1/ALK1 Gene as a Cause of HHT2
Suriel Errasti Díaz, Mercedes Peñalva, Lucía Recio-Poveda, Susana Vilches, Juan Casado-Vela, Julián Pérez Pérez, Luisa María Botella, Virginia Albiñana, Angel M. Cuesta
J Clin Med. 2022 Jun; 11(11): 3053. Published online 2022 May 28. doi: 10.3390/jcm11113053
PMCID:
PMC9181680
ArticlePDF–1.9M
2.
Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient
Minsu Ha, Yoon Jae Kim, Kwang An Kwon, Ki Baik Hahm, Mi-Jung Kim, Dong Kyu Kim, Young Jae Lee, S Paul Oh
World J Gastroenterol. 2012 Apr 21; 18(15): 1840–1844. Published online 2012 Apr 21. doi: 10.3748/wjg.v18.i15.1840
PMCID:
PMC3332300
ArticlePDF–820K
3.
ALK5- and TGFBR2-independent role of ALK1 in the pathogenesis of hereditary hemorrhagic telangiectasia type 2
Sung O. Park, Young Jae Lee, Tsugio Seki, Kwon-Ho Hong, Naime Fliess, Zhigang Jiang, Alice Park, Xiaofang Wu, Vesa Kaartinen, Beth L. Roman, S. Paul Oh
Blood. 2008 Jan 15; 111(2): 633–642. Prepublished online 2007 Oct 2. doi: 10.1182/blood-2007-08-107359
PMCID:
PMC2200847
Article
4.
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.
J N Berg, C J Gallione, T T Stenzel, D W Johnson, W P Allen, C E Schwartz, C E Jackson, M E Porteous, D A Marchuk
Am J Hum Genet. 1997 Jul; 61(1): 60–67. doi: 10.1086/513903
PMCID:
PMC1715857
SummaryPage BrowsePDF–1.4M
5.
Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2.
M Piantanida, E Buscarini, C Dellavecchia, A Minelli, A Rossi, L Buscarini, C Danesino
J Med Genet. 1996 Jun; 33(6): 441–443. doi: 10.1136/jmg.33.6.441
PMCID:
PMC1050627
SummaryPage BrowsePDF–456K

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