Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family-Reference-Cited by-同舟云学术

Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family

Published:2020 Issue:1 Volume:43 Page:
ISSN:1678-4685
Container-title:Genetics and Molecular Biology
language:
Short-container-title:Genet. Mol. Biol.

Author:

Zevallos-Morales Alejandro¹^ORCID,Murillo Alexis¹^ORCID,Dueñas-Roque Milagros M.²^ORCID,Prötzel Ana²,Venegas-Tresierra Luis²,Ángeles-Villalba Verónica²,Guevara-Cruz Miguel²,Chávez-Gil Ada²,Fujita Ricardo¹,Guevara-Fujita Maria L.¹^ORCID

Affiliation:

1. Universidad de San Martín de Porres, Peru

2. Hospital Nacional Edgardo Rebagliati Martins, Peru

Publisher

FapUNIFESP (SciELO)

Subject

Genetics,Molecular Biology

Link

http://www.scielo.br/pdf/gmb/v43n1/1415-4757-GMB-43-01-20190126.pdf

Reference23 articles.

1. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease;Abdalla SA;J Med Genet,2006

2. A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7;Bayrak-Toydemir P;Am J Med Genet A,2006

3. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century;Begbie ME;Postgrad Med J,2003

4. Brain abscess as an initial presentation in a patient of hereditary haemorrhagic telangiectasia caused by a novel ENG mutation;Chen KH;BMJ Case Rep,2013

5. A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5;Cole SG;J Med Genet,2005

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