A novel 5′-upstream mutation in the factor XII gene is associated with a TaqI restriction site in an Alu repeat in factor XII-deficient patients

Human Genetics

Volumn 97, Issue 6, 1996, Pages 838-841

  Hofferbert, Sigrun ^a   Müller, Jens ^a   Köstering, Heinz ^a   Von Ohlen, Wolf Diedrich ^b   Schloesser, Manfred ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b NONE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 12; RESTRICTION ENDONUCLEASE;

ALU SEQUENCE; ARTICLE; BLOOD CLOTTING FACTOR 12 DEFICIENCY; CLINICAL ARTICLE; CONTROLLED STUDY; HORMONE RESPONSIVE ELEMENT; HUMAN; HUMAN CELL; POINT MUTATION; PRIORITY JOURNAL; PROMOTER REGION; RESTRICTION SITE; TRANSCRIPTION INITIATION;

ADULT; BASE SEQUENCE; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; EXONS; FACTOR XII; FACTOR XII DEFICIENCY; FEMALE; HUMANS; INTRONS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROMOTER REGIONS (GENETICS); REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 0029944742     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02346200     Document Type: Article

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