The genetic analysis of eight families with hemophilia B in Mongolia: Identification of two novel mutation.

Purevdorj MunkhuuMunkhtsetseg BazarragchaaPurevdorj IchinkhorlooKi-Young YooEnkh-Amar AyushOchbadrakh BatjargalErdenebayar NamjilSarantuya JavErkhembulgan Purevdorj Sodnomtsogt Lkhagvasuren

Published in: Molecular genetics & genomic medicine (2024)

The novel variants c.187_188del and c.1314_1314delA can cause severe hemophilia B. This study did not observe a significant association between symptoms and carrier status in the five carriers.

Keyphrases

early onset
dna methylation
drug induced