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...

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Detalles Bibliográficos
Autores principales: Chandrasekar, Sathya Priya, Namboothiri, Sheela, Sen, Parveen, Sarangapani, Sripriya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Original Article
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

Internet

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

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