000 01503 a2200457 4500
005 20250513045700.0
264 0 _c19950314
008 199503s 0 0 eng d
022 _a0340-6245
040 _aNLM
_beng
_cNLM
100 1 _aSimsek, S
245 0 0 _aIdentification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ib alpha causing Bernard-Soulier syndrome.
_h[electronic resource]
260 _bThrombosis and haemostasis
_cSep 1994
300 _a444-9 p.
_bdigital
500 _aPublication Type: Case Reports; Comparative Study; Journal Article
650 0 4 _aAdult
650 0 4 _aAlleles
650 0 4 _aAmino Acid Sequence
650 0 4 _aBase Composition
650 0 4 _aBase Sequence
650 0 4 _aBernard-Soulier Syndrome
_xgenetics
650 0 4 _aDNA Mutational Analysis
650 0 4 _aFemale
650 0 4 _aGenes
650 0 4 _aHomozygote
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMolecular Sequence Data
650 0 4 _aPedigree
650 0 4 _aPlatelet Membrane Glycoproteins
_xdeficiency
650 0 4 _aPolymerase Chain Reaction
650 0 4 _aReceptors, Cell Surface
_xdeficiency
650 0 4 _aSequence Alignment
650 0 4 _aSequence Deletion
650 0 4 _avon Willebrand Factor
_xmetabolism
700 1 _aAdmiraal, L G
700 1 _aModderman, P W
700 1 _avan der Schoot, C E
700 1 _avon dem Borne, A E
773 0 _tThrombosis and haemostasis
_gvol. 72
_gno. 3
_gp. 444-9
999 _c7855133
_d7855133