Genetic analysis of protein c deficiency in nineteen Japanese families: Five recurrent defects can explain half of the deficiencies

Thrombosis Research

Volumn 92, Issue 4, 1998, Pages 181-187

  Miyata, Toshiyuki ^a,f   Sakata, Toshiyuki ^a   Yasumuro, Yoko ^a   Okamura, Takashi ^b   Katsumi, Akira ^c   Saito, Hidehiko ^c   Abe, Takashi ^d   Shirahata, Akira ^e   Sakai, Michio ^e   Kato, Hisao ^a  

^a ST MARIANNA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KYUSHU UNIVERSITY   (Japan)

^c NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d Kawasaki Kokoro Hospital   (Japan)

^e UNIVERSITY OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH   (Japan)

^f NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

Author keywords

Genetic disease; Mutation; Protein C deficiency; Thrombosis, SSCP

Indexed keywords

ARGININE; ASPARAGINE; ASPARTIC ACID; HISTIDINE; ISOLEUCINE; LYSINE; METHIONINE; PHENYLALANINE; PROTEIN C; RESTRICTION ENDONUCLEASE; TRYPTOPHAN; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; DINUCLEOTIDE REPEAT; FAMILIAL DISEASE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC SCREENING; HUMAN; HUMAN CELL; JAPAN; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN C DEFICIENCY; SINGLE STRAND CONFORMATION POLYMORPHISM;

EXONS; HUMANS; JAPAN; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN C DEFICIENCY;

EID: 0032534029     PISSN: 00493848     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0049-3848(98)00131-5     Document Type: Article

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