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| Vettore S, Scandellari R, Moro S, et al.
Novel point mutation in a leucine-rich repeat of the GPIb{alpha} 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. [JOURNAL ARTICLE]
Haematologica 2008 Sep 24.
Abstract | Full Citation | Find Related Articles | | Miller JL, Lyle VA, Cunningham D
Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease. [Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S. ]
Blood 1992 Jan 15; 79(2):439-46.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Savoia A, Balduini CL, Savino M, et al.
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. [Journal Article]
Blood 2001 Mar 1; 97(5):1330-5.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | de la Salle C, Baas MJ, Lanza F, et al.
A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I). [Case Reports, Journal Article]
Br J Haematol 1995 Feb; 89(2):386-96.
Abstract | Full Citation | Find Related Articles | | Li C, Martin SE, Roth GJ
The genetic defect in two well-studied cases of Bernard-Soulier syndrome: a point mutation in the fifth leucine-rich repeat of platelet glycoprotein Ib alpha. [Journal Article]
Blood 1995 Nov 15; 86(10):3805-14.
Abstract | Full Citation | Find Related Articles | | Kenny D, Jónsson OG, Morateck PA, et al.
Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein. [Case Reports, Journal Article]
Blood 1998 Jul 1; 92(1):175-83.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Ulsemer P, Lanza F, Baas MJ, et al.
Role of the leucine-rich domain of platelet GPIbalpha in correct post-translational processing--the Nancy I Bernard-Soulier mutation expressed on CHO cells. [Journal Article]
Thromb Haemost 2000 Jul; 84(1):104-11.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Rosenburg N, Lalezari S, Landau M, et al.
Trp207Gly in platelet glycoprotein Ibalpha is a novel mutation which disrupts the connection between the leucine-rich repeat domain and the disulfide loop structure and causes Bernard-Soulier syndrome. [JOURNAL ARTICLE]
J Thromb Haemost 2006 Nov 2.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Noris P, Simsek S, Stibbe J, et al.
A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome. [Case Reports, Journal Article]
Br J Haematol 1997 May; 97(2):312-20.
Abstract | Full Citation | Find Related Articles |   |
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