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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2018-01-01
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| Series: | Indian Journal of Medical Research |
| Subjects: | |
| Online Access: | http://www.ijmr.org.in/article.asp?issn=0971-5916;year=2018;volume=147;issue=2;spage=177;epage=182;aulast=Chandrasekar |