A carregar...
Screening for mutation hotspots in Bardet–Biedl syndrome patients from India
BACKGROUND & OBJECTIVES: Bardet–Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by multiple organ defects involving retina, kidney, liver and brain. Disease-causing mutations in BBS genes narrowed down by homozygosity mapping in small consanguineous...
Na minha lista:
| Publicado no: | Indian J Med Res |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Medknow Publications & Media Pvt Ltd
2018
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5991121/ https://ncbi.nlm.nih.gov/pubmed/29806606 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/ijmr.IJMR_1822_15 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|