A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome

PURPOSE: To identify the causative mutation in two siblings from a consanguineous family in India with retinitis pigmentosa (RP) and polydactyly without other findings of Bardet-Biedl syndrome (BBS). We also performed functional characterization of the mutant protein to explore its role in this limi...

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Bibliografiska uppgifter
I publikationen:Mol Vis
Huvudupphovsmän: Hulleman, John D., Nguyen, Annie, Ramprasad, V.L., Murugan, Sakthivel, Gupta, Ravi, Mahindrakar, Avinash, Angara, Ravi, Sankurathri, Chandrasekhar, Mootha, V. Vinod
Materialtyp: Artigo
Språk:Inglês
Publicerad: Molecular Vision 2016
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4734152/
https://ncbi.nlm.nih.gov/pubmed/26900326
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