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. 2014 Dec 24;9:213. doi: 10.1186/s13023-014-0213-6

Table 5.

Molecular diagnosis of Bernard Soulier syndrome patients

Patients with molecular diagnosis Gene Inheritance Mutation Reference
BSS-1 GP9 Homozygous p.Trp71Arg new
BSS-2 GP1BA Homozygous p.Cys209Ser [34]
BSS-3 GP1BA Possibly Heterozygous p.Gln90_Leu92del new
- -
BSS-4 GP9 Homozygous p.Asn45Ser [33,36]
BSS-5 GP9 Homozygous p.Phe55Ser [35]
BSS-6 GP9 Homozygous p.Phe55Ser [35]
BSS-7 GP9 Homozygous p.Phe55Ser [35]
BSS-8 GP1BB Homozygous p.Pro90Ser new

Abbreviations: BS bleeding score, BSS Bernard Soulier Syndrome.