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Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis - 1 Jul 2018

Khan Muhammad Tariq Masood, Naz Arshi, Ahmed Jawad, Shamsi Tahir, Ahmed Shariq, Ahmed Nisar, Imran Ayisha, Farooq Nazish, Khan Muhammad Tariq Hamayun, Taj Abid Sohail

Abstract excerpt

This study aimed to (1) identify F9 genetic alterations in patients with hemophilia B (HB) of Pakistani origin and (2) determine the genotype-phenotype relationships in these patients. Diagnosed cases of HB were identified through registries at designated tertiary health-care centers across the country. Consenting patients were enrolled into the study. The factor IX (FIX) coagulation activity (FIX:C) and key...

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Identifiers

PMID: 28752769
DOI: 10.1177/1076029617721011
PMCID: PMC6714882

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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