Výsledky vyhledávání - "Zahurul Bhuiyan"

The «Amish» NM_000256.3:c.3330+2TG splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation

Autor: Claire Redin, Despina Christina Pavlidou, Zahurul Bhuiyan, Alessandra Pia Porretta, Pierre Monney, Nicola Bedoni, Fabienne Maurer, Nicole Sekarski, Isis Atallah, Davoine Émeline, Xavier Jeanrenaud, Etienne Pruvot, Jacques Fellay, Andrea Superti-Furga

Publikováno v: European journal of medical genetics, vol. 65, no. 12, pp. 104627

MYBPC3 is the most frequently mutated gene in hypertrophic cardiomyopathy (HCM). Several loss-of-function founder variants have been reported in MYBPC3 from various geographic regions, altogether suggestive of a modest or absent effect of these varia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faddc27f63e5edb9bbde46ab4b0fbfeb
https://pubmed.ncbi.nlm.nih.gov/36162733

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Review of: 'Penetrance and disease expression of (likely) pathogenic variants associated with inherited cardiomyopathies in the general population'

Autor: Zahurul Bhuiyan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::85dda5014f0374207e3db1ce1b0d3ef9
https://doi.org/10.32388/c17hcm

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