Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis

Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis

Abstract Background Over half of children with rare genetic diseases remain undiagnosed despite maximal clinical evaluation and DNA‐based genetic testing. As part of an Undiagnosed Diseases Program applying transcriptome (RNA) sequencing to identify the causes of these unsolved cases, we studied a c...

ver descrição completa

Detalhes bibliográficos
Main Authors: Odelia Chorin, Naomi Yachelevich, Khaled Mohamed, Ilana Moscatelli, John Pappas, Kim Henriksen, Gilad D. Evrony
Formato: Artigo
Idioma:English
Publicado em: Wiley 2020-10-01
Colecção:Molecular Genetics & Genomic Medicine
Assuntos:
CLCN7
osteopetrosis
RNA‐sequencing
transcriptomics
undiagnosed diseases
Acesso em linha:https://doi.org/10.1002/mgg3.1405

Internet

https://doi.org/10.1002/mgg3.1405

Registos relacionados