Open AccessDiagnosis and phenotypic assessment of Pakistani Haemophilia B carriers
Author(s) -
Muhammad Tariq Masood Khan,
Arshi Naz,
Jawad Ahmed,
Tahir Shamsi,
Abid Sohail Taj
Publication year - 2017
Publication title -
pakistan journal of medical sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.316
H-Index - 30
eISSN - 1682-024X
pISSN - 1681-715X
DOI - 10.12669/pjms.333.12496
Subject(s) - medicine , sanger sequencing , proband , haemophilia a , loss of heterozygosity , taqi , allele , genetics , polymorphism (computer science) , pediatrics , haemophilia , dna sequencing , gene , mutation , biology
1: To assess the diagnostic utility of three polymorphisms (DdeI, XmnI and TaqI) and direct sequencing in haemophilia B (HB) carrier detection in Pakistani families. 2: To compare phenotypes of HB carriers with those of healthy females.