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Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12)

Bardet-Biedl syndrome (BBS) is a rare genetic disorder that belongs to the group of ciliopathies, defined as diseases caused by defects in cilia structure and/or function. The six diagnostic features considered for this syndrome include retinal dystrophy, obesity, polydactyly, cognitive impairment a...

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Detaylı Bibliyografya
Yayımlandı:Front Mol Biosci
Asıl Yazarlar: Álvarez-Satta, María, Castro-Sánchez, Sheila, Valverde, Diana
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Frontiers Media S.A. 2017
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5534436/
https://ncbi.nlm.nih.gov/pubmed/28824921
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fmolb.2017.00055
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