Literature DB >> 8949397

[History of congenital thrombocytic hemorrhagic dystrophy].

J Bernard1.   

Abstract

This historical review of the Bernard-Soulier syndrome relates: (1) the first description of the disease; (2) the main data of the research from 1948 to 1982 which led to the discovery of the molecular abnormality (lack or qualitative abnormality of the platelet glycoprotein Ib) responsible for the functional disorder (defective platelet adhesion to the vascular subendothelium) which nowadays defines the disorder.

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Year:  1996        PMID: 8949397

Source DB:  PubMed          Journal:  C R Acad Sci III        ISSN: 0764-4469


  1 in total

1.  Novel Compound Heterozygous Mutations in Two Families With Bernard-Soulier Syndrome.

Authors:  Milen Minkov; Petra Zeitlhofer; Andreas Zoubek; Leo Kager; Simon Panzer; Oskar A Haas
Journal:  Front Pediatr       Date:  2021-01-22       Impact factor: 3.418

  1 in total

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