Novel Bernard-Soulier syndrome variants caused by compound heterozygous mutations (case I) or a cytoplasmic tail truncation (case II) of GPIbα

Thrombosis Research

Volumn 131, Issue 4, 2013, Pages

  Yamamoto, Naomasa ^a   Akamatsu, Noriko ^b   Sakuraba, Hitoshi ^c   Matsuno, Kazuhiko ^d   Hosoya, Ryota ^e   Nogami, Haruo ^f   Kasahara, Kohji ^b   Mitsuyama, Susumu ^g   Arai, Morio ^h  

^a OHU UNIVERSITY   (Japan)

^b TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^c MEIJI PHARMACEUTICAL UNIVERSITY   (Japan)

^d HOKKAIDO UNIVERSITY HOSPITAL   (Japan)

^e ST LUKE'S INTERNATIONAL HOSPITAL   (Japan)

^f UNIVERSITY OF TSUKUBA   (Japan)

^g KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^h TOKYO MEDICAL UNIVERSITY   (Japan)

Author keywords

Bernard Soulier syndrome; GPIb IX V complex; Mutations; Ristocetin induced platelet aggregation; Shape change; Variable number of tandem repeats

Indexed keywords

ADENOSINE TRIPHOSPHATE; GLYCOPROTEIN IB ALPHA; RISTOCETIN;

ADULT; ALLELE; ARTICLE; BERNARD SOULIER DISEASE; CASE REPORT; CELL SURFACE; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; STOP CODON; THROMBOCYTE ACTIVATION; THROMBOCYTE AGGREGATION; VARIABLE NUMBER OF TANDEM REPEAT;

ADULT; AMINO ACID SEQUENCE; BERNARD-SOULIER SYNDROME; BLOOD PLATELETS; FEMALE; HETEROZYGOTE; HUMANS; MUTATION; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; SEQUENCE DELETION; YOUNG ADULT;

EID: 84875752400     PISSN: 00493848     EISSN: 18792472     Source Type: Journal    
DOI: 10.1016/j.thromres.2013.01.014     Document Type: Article

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