F8 variants and their genotype-phenotype correlations in Thai patients with haemophilia A: a nationwide multicentre study.

Chayanit Trirut Darintr Sosothikul Rungnapa Ittiwut Chupong Ittiwut Sureeporn Pongsewalak Natsaruth Songthawee Rungrote Natesirinilkul Pallapa Banjerdlak Pokpong Na Songkhla Patcharee Komwilaisak Chatphatai Moonla Kanya Suphapeetiporn

Published in: Journal of clinical pathology (2024)

alterations in most HA cases. With several unique variants, severe HA in Thailand is considerably caused by Inv22, small insertion/deletion and nonsense, whereas missense variants are more responsible for nonsevere HA phenotypes.

Keyphrases

copy number
early onset
gene expression
dna methylation
intellectual disability
cross sectional
drug induced