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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991121/ https://www.ncbi.nlm.nih.gov/pubmed/29806606 http://dx.doi.org/10.4103/ijmr.IJMR_1822_15 |