A novel splicing mutation in 5'UTR of GJB1 causes X‐linked Charcot—Marie–tooth disease
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2108
Abstract: Charcot–Marie–Tooth (CMT) disease is the most frequent hereditary motor sensory neurological disease. GJB1 gene is the second most frequent cause of CMT, accounting for approximately 10% of CMT cases worldwide. We identified a large Han… read more here.
Keywords: novel splicing; charcot marie; disease; marie tooth ... See more keywords
A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Human Genome Variation"
DOI: 10.1038/s41439-019-0046-x
Abstract: A loss of function mutation in SLC9A6 (Xq26.3) is responsible for Christianson syndrome in males. We identified a novel splicing mutation (NM_006359.2:c.1141-8C>A) of SLC9A6 in a seven-year-old boy with microcephaly, severe developmental delay, and intractable… read more here.
Keywords: slc9a6; mutation slc9a6; novel splicing; christianson syndrome ... See more keywords