A carregar...
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome
Joubert Syndrome (JS) is an inherited ciliopathy associated with mutations in genes essential in primary cilium function. Whole exome sequencing in a multiplex consanguineous family from India revealed a KIAA0556 homozygous single base pair deletion mutation (c.4420del; p.Met1474Cysfs*11). Affected...
Na minha lista:
| Publicado no: | Hum Genet |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4955754/ https://ncbi.nlm.nih.gov/pubmed/27245168 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-016-1689-z |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|