In vitro transcription of compound heterozygous hypofibrinogenemia Matsumoto IX; first identification of FGB IVS6 deletion of 4 nucleotides and FGG IVS3-2A>G causing abnormal RNA splicing

Clinica Chimica Acta

Volumn 411, Issue 17-18, 2010, Pages 1325-1329

  Terasawa, Fumiko ^a   Kamijyo, Yuka ^b   Fujihara, Noriko ^b   Yamauchi, Kazuyoshi ^c   Kumagai, Toshiko ^b   Honda, Takayuki ^b   Shigematsu, Satoshi ^d   Okumura, Nobuo ^a  

^a SHINSHU UNIVERSITY   (Japan)

^b SHINSHU UNIVERSITY HOSPITAL   (Japan)

^c UNIVERSITY OF TSUKUBA   (Japan)

^d SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

FGB gene; FGG gene; Hypofibrinogenemia; RNA splicing abnormality

Indexed keywords

DNA FRAGMENT; FIBRINOGEN; PROTEIN FGA; PROTEIN FGB; PROTEIN FGG; UNCLASSIFIED DRUG; FIBRINOGEN VARIANT; MESSENGER RNA; PRIMER DNA;

ADULT; AGAR GEL ELECTROPHORESIS; ANIMAL CELL; ARTICLE; CASE REPORT; CONTROLLED STUDY; CYTOPLASM; DEGRADATION; DNA SEQUENCE; EXPRESSION VECTOR; GENE DELETION; GENE MUTATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HYPOFIBRINOGENEMIA; HYPOFIBRINOGENEMIA MATSUMOTO IX; IN VITRO STUDY; INTRON; LIVER CELL; MALE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; QUALITY CONTROL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION; RNA SPLICING; SEQUENCE ANALYSIS; ANIMAL; CHO CELL LINE; CRICETULUS; GENETICS; HAMSTER; HETEROZYGOTE; METABOLISM;

ANIMALS; BASE SEQUENCE; CHO CELLS; CRICETINAE; CRICETULUS; DNA PRIMERS; FIBRINOGENS, ABNORMAL; HETEROZYGOTE; HUMANS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; RNA, MESSENGER; SEQUENCE DELETION; TRANSCRIPTION, GENETIC;

EID: 77954144196     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2010.05.030     Document Type: Article

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