Failure in the detection of aberrant mRNA from the heterozygotic splice site mutant allele for protein S in a patient with protein S deficiency

Thrombosis Research

Volumn 102, Issue 3, 2001, Pages 187-196

  Iida, Hiroko ^a   Nakahara, Mutsuko ^a   Komori, Kimihiro ^a   Fujise, Masako ^a   Wakiyama, Machiko ^a   Urata, Michiyo ^a   Kinoshita, Sachiko ^a   Tsuda, Hiroko ^a   Sugimachi, Keizo ^a   Hamasaki, Naotaka ^a  

^a KYUSHU UNIVERSITY HOSPITAL   (Japan)

Author keywords

Allelic exclusion; C4b binding protein; Gene analysis; Protein S deficiency; Splice site mutation; Thrombosis

Indexed keywords

MESSENGER RNA; PROTEIN S;

ADULT; ALLELE; ARTERY OCCLUSION; ARTICLE; CASE REPORT; CHROMOSOME ABERRATION; CODON; CONTROLLED STUDY; DEEP VEIN THROMBOSIS; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; INTRON; LUNG INFARCTION; MALE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN S DEFICIENCY; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; ALLELES; ARTERIAL OCCLUSIVE DISEASES; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; HETEROZYGOTE; HUMANS; MALE; POINT MUTATION; PROTEIN S; PROTEIN S DEFICIENCY; PULMONARY EMBOLISM; RNA SPLICE SITES; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; VENOUS THROMBOSIS;

EID: 17144434467     PISSN: 00493848     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0049-3848(01)00246-8     Document Type: Article

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