Article
Molecular characterization of hemophilia B patients in Colombia.
Molecular genetics & genomic medicine - 1 May 2020
Parrado Jara Yolima A, Yunis Hazbun Luz K, Linares Adriana, Yunis Londoño Juan J
Abstract excerpt
BACKGROUND: Hemophilia B (HB) is a coagulation disorder with an X-linked recessive inheritance pattern, caused by plasma FIX deficiency. In Colombia, HB is considered a rare and high-cost disease, with 362 males reported in 2017. METHODS: Here, we characterized 20 HB apparently unrelated families by PCR amplification and Sanger sequencing. RESULTS: Fourteen unique variants were identified: seven missense, three...
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