Two distinct novel splice site mutations in a compound heterozygous patient with protein S deficiency

Thrombosis and Haemostasis

Volumn 77, Issue 1, 1997, Pages 14-20

  Yamazaki, Tomio ^a,d   Katsumi, Akira ^a   Okamoto, Yoshihiro ^a,b   Takafuta, Toshio ^c   Tsuzuki, Shinobu ^a   Kagami, Kazuo ^a   Sugiura, Isamu ^a   Kojima, Tetsuhito ^a   Fujimura, Kingo ^c   Saito, Hidehiko ^a  

^a NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b MEIJO UNIVERSITY   (Japan)

^c HIROSHIMA UNIVERSITY   (Japan)

^d YAMAGATA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; MUTANT PROTEIN; PROTEIN S;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; HUMAN CELL; INTRON; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN S DEFICIENCY; PROTEIN STABILITY;

EID: 0031042313     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0038-1655729     Document Type: Article

References (46)

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