Severe haemophilia B due to a 6 kb factor IX gene deletion including exon 4: Non-homologous recombination associated with a shortened transcript from whole blood

Thrombosis and Haemostasis

Volumn 97, Issue 2, 2007, Pages 176-180

  Hsu, Ting Chang ^a   Nakaya, Shelley M ^a   Thompson, Arthur R ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Deletion breakpoints; Ectopic mRNA; Exon 4; Factor IX gene; Haemophilia B

Indexed keywords

BLOOD CLOTTING FACTOR 9; COMPLEMENTARY DNA; GROWTH FACTOR; MESSENGER RNA; RESTRICTION ENDONUCLEASE;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ADULT; ARTICLE; BLOOD ANALYSIS; CASE REPORT; DISEASE SEVERITY; EXON; FEMALE; FRANCE; GENE AMPLIFICATION; GENE DELETION; GENE SEQUENCE; GENETIC TRANSCRIPTION; GENOTYPE; HEMOPHILIA B; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INTRON; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PREDICTION; PRIORITY JOURNAL; PROTEIN DOMAIN; REVERSE TRANSCRIPTION; SEQUENCE ANALYSIS; WESTERN BLOTTING; ADOLESCENT; BLOOD; GENETIC RECOMBINATION; GENETICS; HOSPITALIZATION; METABOLISM; METHODOLOGY; MOLECULAR GENETICS; PEDIGREE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADOLESCENT; BASE SEQUENCE; EXONS; FACTOR IX; GENE DELETION; GENOTYPE; HEMOPHILIA B; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; RECOMBINATION, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEVERITY OF ILLNESS INDEX;

EID: 33947533704     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH06-10-0592     Document Type: Article

References (19)

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