|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0005129,
umls-concept:C0015127,
umls-concept:C0026882,
umls-concept:C0086816,
umls-concept:C0205314,
umls-concept:C0449379,
umls-concept:C0678594,
umls-concept:C0679622,
umls-concept:C1314792,
umls-concept:C1514562,
umls-concept:C1517773,
umls-concept:C1880389,
umls-concept:C1883204,
umls-concept:C1883221
|
|
pubmed:issue |
2
|
|
pubmed:dateCreated |
2007-2-2
|
|
pubmed:abstractText |
Bernard-Soulier syndrome (BSS) is a severe inherited bleeding disorder that is caused by a defect in glycoprotein (GP)Ib-IX-V complex, the platelet membrane receptor for von Willebrand factor.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Feb
|
|
pubmed:issn |
1538-7933
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
5
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
378-86
|
|
pubmed:meshHeading |
pubmed-meshheading:17083647-Adolescent,
pubmed-meshheading:17083647-Amino Acid Motifs,
pubmed-meshheading:17083647-Bernard-Soulier Syndrome,
pubmed-meshheading:17083647-Blood Platelets,
pubmed-meshheading:17083647-Child,
pubmed-meshheading:17083647-Cloning, Molecular,
pubmed-meshheading:17083647-Crystallography, X-Ray,
pubmed-meshheading:17083647-Female,
pubmed-meshheading:17083647-Hemorrhage,
pubmed-meshheading:17083647-Humans,
pubmed-meshheading:17083647-Jews,
pubmed-meshheading:17083647-Leucine,
pubmed-meshheading:17083647-Mutation, Missense,
pubmed-meshheading:17083647-Pedigree,
pubmed-meshheading:17083647-Platelet Glycoprotein GPIb-IX Complex,
pubmed-meshheading:17083647-Protein Folding,
pubmed-meshheading:17083647-Protein Structure, Tertiary,
pubmed-meshheading:17083647-Repetitive Sequences, Nucleic Acid,
pubmed-meshheading:17083647-Thrombocytopenia
|
|
pubmed:year |
2007
|
|
pubmed:articleTitle |
Trp207Gly in platelet glycoprotein Ibalpha is a novel mutation that disrupts the connection between the leucine-rich repeat domain and the disulfide loop structure and causes Bernard-Soulier syndrome.
|
|
pubmed:affiliation |
Amalia Biron Research Institute of Thrombosis and Hemostasis, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
|
|
pubmed:publicationType |
Journal Article,
Case Reports
|
