GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families

Ann Hematol. 2023 Mar;102(3):677-679. doi: 10.1007/s00277-022-05079-0. Epub 2022 Dec 21.

Authors

Serena Barozzi¹, Alessandro Pecci^{1

2}, Maddalena Marinoni³, Giorgia Fontana⁴, Melania Eva Zanchetta⁴, Patrizia Noris², Anna Savoia⁵, Michela Faleschini⁴

Affiliations

¹ Medicina Generale 1, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.
² Department of Internal Medicine, University of Pavia, Pavia, Italy.
³ Maternal and Child Department, F. Del Ponte Hospital, Varese, Italy.
⁴ Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
⁵ Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy. anna.savoia@univr.it.

PMID: 36539614
DOI: 10.1007/s00277-022-05079-0

No abstract available

Publication types

Letter

MeSH terms

Bernard-Soulier Syndrome*
Blood Platelets
Humans
Italy
Mutation
Platelet Glycoprotein GPIb-IX Complex* / genetics

Substances

Platelet Glycoprotein GPIb-IX Complex
adhesion receptor

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