Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the <i>ACVRL1</i> c.289_294del variant originated in the country of Bergamo 200 years ago-Reference-Cited by-同舟云学术

Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago

Published:2022-05-27 Issue:8 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Sbalchiero Anna¹^ORCID,Abu Hweij Yasmin¹,Mazza Tommaso²,Buscarini Elisabetta³,Scotti Claudia⁴,Pagella Fabio⁵⁶,Manfredi Guido³,Matti Elina⁶,Spinozzi Giuseppe⁶,Olivieri Carla¹^ORCID

Affiliation:

1. General Biology and Medical Genetics Unit, Department of Molecular Medicine University of Pavia Pavia Italy

2. Laboratory of Bioinformatics Fondazione IRCCS Casa Sollievo della Sofferenza‐Mendel San Giovanni Rotondo (FG) Italy

3. UOC of Gastroenterology‐Reference Centre for HHT ASST Ospedale Maggiore di Crema Crema (CR) Italy

4. Immunology and General Pathology Unit, Department of Molecular Medicine University of Pavia Pavia Italy

5. UOC of Otorhinolaryngology, Department of Surgical Sciences University of Pavia Pavia Italy

6. UOC of Otorhinolaryngology Fondazione IRCCS Policlinico San Matteo Pavia Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1972

Reference31 articles.

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