000 01440 a2200469 4500
005 20250513055740.0
264 0 _c19940907
008 199409s 0 0 eng d
022 _a0006-4971
040 _aNLM
_beng
_cNLM
100 1 _aClemetson, J M
245 0 0 _aVariant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX.
_h[electronic resource]
260 _bBlood
_cAug 1994
300 _a1124-31 p.
_bdigital
500 _aPublication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdult
650 0 4 _aAmino Acid Sequence
650 0 4 _aAsparagine
650 0 4 _aBase Sequence
650 0 4 _aBernard-Soulier Syndrome
_xblood
650 0 4 _aBlood Platelets
_xphysiology
650 0 4 _aBlotting, Western
650 0 4 _aDNA
_xblood
650 0 4 _aDNA Primers
650 0 4 _aFemale
650 0 4 _aGenetic Variation
650 0 4 _aHumans
650 0 4 _aLeucine
650 0 4 _aMale
650 0 4 _aMolecular Sequence Data
650 0 4 _aPedigree
650 0 4 _aPlatelet Aggregation
650 0 4 _aPlatelet Membrane Glycoproteins
_xanalysis
650 0 4 _aPoint Mutation
650 0 4 _aPolymerase Chain Reaction
650 0 4 _aReference Values
650 0 4 _aSerine
700 1 _aKyrle, P A
700 1 _aBrenner, B
700 1 _aClemetson, K J
773 0 _tBlood
_gvol. 84
_gno. 4
_gp. 1124-31
999 _c8048755
_d8048755