相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations
Anna Savoia et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2011)
Bernard-Soulier syndrome: novel nonsense mutation in GPIb beta gene affecting GPIb-IX complex expression
Basma Hadjkacem et al.
ANNALS OF HEMATOLOGY (2009)
Novel point mutation in a leucine-rich repeat of the GPIbα chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant
Silvia Vettore et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2008)
Trp207Gly in platelet glycoprotein Ibα is a novel mutation that disrupts the connection between the leucine-rich repeat domain and the disulfide loop structure and causes Bernard-Soulier syndrome
N. Rosenberg et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2007)
A new multiplex PCR and conformation-sensitive gel electrophoresis strategy for mutation detection in the platelet glycoprotein alpha(IIb) and beta(3) genes
G. Jayandharan et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2007)
Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy)
Francois Lanza
ORPHANET JOURNAL OF RARE DISEASES (2006)
Six novel mutations including triple heterozygosity for Phe31Ser, 514delT and 516T→G factor X gene mutations are responsible for congenital factor X deficiency in patients of Nepali and Indian origin
G Jayandharan et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2005)
Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX:: an unexpected, frequent finding in Germany
UJH Sachs et al.
BRITISH JOURNAL OF HAEMATOLOGY (2003)
Inherited platelet-based bleeding disorders
M Cattaneo
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2003)
A novel missense mutation shows that GPIbβ has a dual role in controlling the processing and stability of the platelet GPIb-IX adhesion receptor
C Strassel et al.
BIOCHEMISTRY (2003)
Human non-synonymous SNPs: server and survey
V Ramensky et al.
NUCLEIC ACIDS RESEARCH (2002)
Prediction of deleterious human alleles
S Sunyaev et al.
HUMAN MOLECULAR GENETICS (2001)
Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome
CE Rivera et al.
BRITISH JOURNAL OF HAEMATOLOGY (2001)
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