As part of the Bloodomics collaboration we have several categories of pedigrees with diseases/syndromes relevant to cardiovascular diseases (CVD). One such pedigree, Grey Platelet Syndrome (GPS) is a

NIAID Data Ecosystem60

Soliciting international perspectives on an American national research agenda for inherited bleeding disorders

遗传性出血性疾病

研究议程制定

Soliciting international perspectives on an American national research agenda for inherited bleeding disorders

NIAID Data Ecosystem50

Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding

遗传性出血性疾病

血小板功能异常

Familial hemophagocytic lymphohistiocytosis (FHL) is caused by biallelic variants in genes regulating granule secretion in cytotoxic lymphocytes. In FHL3–5, the affected genes UNC13D, STX11 and STXBP2

NIAID Data Ecosystem70

A case of factor XI deficiency gene mutation and clinical analysis

凝血因子缺乏

遗传性出血性疾病

Objective To conduct gene mutation detection in a proband with coagulation factor XI (FXI) deficiency, preliminarily explore its pathogenesis, and enrich the FXI deficiency database. Methods Use a coa

NIAID Data Ecosystem50

Different deletions identified in Indian type 3 VWD patients.

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