ライフサイエンスコーパス: Bernard-Soulier syndrome

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1 ng the hallmark characteristics of the human Bernard-Soulier syndrome.

2 s associated with the rare bleeding disorder Bernard-Soulier syndrome.

3 iated with human GP Ibbeta mutations and the Bernard-Soulier syndrome.

4 d with platelets from the mouse model of the Bernard-Soulier syndrome.

5 xplain the thrombocytopenia in patients with Bernard-Soulier syndrome, a bleeding disorder caused by

6 hy defects in GP V have not been observed in Bernard-Soulier syndrome, a bleeding disorder caused by

7 coprotein (GP) Ib-IX receptor results in the Bernard-Soulier syndrome and is characterized by severe

8 Fibrin(ogen) retention was normal in Bernard-Soulier syndrome and kindlin-3 deficiency, but n

9 Bernard-Soulier Syndrome (BSS) is a rare congenital blee

10 Deficiency of GPIb or GPIX results in Bernard-Soulier syndrome (BSS), a bleeding disorder in w

11 s of the GPIb-IX-V complex is pathogenic for Bernard-soulier Syndrome (BSS), which is characterized b

12 he cause of the congenital platelet disorder Bernard-Soulier syndrome (BSS).

13 cribed compound heterozygous defect produces Bernard-Soulier syndrome by a combination of synthesis o

14 Patients with Bernard-Soulier syndrome demonstrate that mutations in e

15 the characterization of a mouse model of the Bernard-Soulier syndrome generated by a targeted disrupt

16 molecular genetic and biosynthetic basis of Bernard-Soulier syndrome in a severely affected white wo

17 The human Bernard-Soulier syndrome is an autosomal recessive disor

18 Bernard-Soulier syndrome is an uncommon bleeding disorde

19 The bleeding in patients with the Bernard-Soulier syndrome is disproportionately more seve

20 ptor were generated and bred into the murine Bernard-Soulier syndrome-producing animals devoid of mou

21 Thus, in this patient, Bernard-Soulier syndrome results from a deletion of one

22 Bernard-Soulier syndrome results from a qualitative or q

23 Ibalpha expression and platelet adhesion in Bernard-Soulier syndrome, the deficiency disorder of the

24 We have utilized a mouse model of the Bernard-Soulier syndrome to engineer platelets expressin

25 e we describe the molecular basis of a novel Bernard-Soulier syndrome variant in a patient in whom GP

26 We describe the molecular basis of a novel Bernard-Soulier syndrome variant in two siblings in whom

27 X mutations described in three siblings with Bernard-Soulier syndrome, we introduced each mutation in

28 d platelets and platelets from patients with Bernard-Soulier syndrome, which are deficient in GPIbalp

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