Mutations associated with Hemophilia B in Turkish patients

Human Mutation

Volumn 10, Issue 1, 1997, Pages 76-79

  Çaǧlayan, S Hande ^a   Gökmen, Yeşim ^a,d   Aktuǧlu, Gülten ^b   Gürgey, Aytemiz ^c   Sommer, Steve S ^e  

^a BOGAZICI UNIVERSITY   (Turkey)

^b ISTANBUL UNIVERSITY   (Turkey)

^c HACETTEPE UNIVERSITY   (Turkey)

^d UNIVERSITY OF TEXAS MEDICAL BRANCH   (United States)

^e NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; DISEASE ASSOCIATION; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HEMOPHILIA B; HUMAN; PRIORITY JOURNAL; TURKEY (REPUBLIC);

CHORIONIC VILLI SAMPLING; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FACTOR IX; GENE DELETION; HAPLOTYPES; HEMOPHILIA B; HUMANS; LEUKOCYTES; MUTATION; POINT MUTATION; SEQUENCE ANALYSIS, DNA; TURKEY;

EID: 0030839884     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:1<76::AID-HUMU11>3.0.CO;2-X     Document Type: Article

References (12)

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8. Goossens, M., Dumez, Y., Kaplan, Lupher, M., Chabret, C., Henrion, R., and Rosa, J. (1983) Prenatal diagnosis of sickle cell anemia in the first trimester of pregnancy. N Engl J Med 309:831-833.
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10. 296→M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection. Hum Genet 87:333-337.
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