Article

Knockout of <i>Bbs10</i> results in lack of cone electrical function and progressive retinal degeneration of rods and cones

2022-01-21

Abstract excerpt

<h4>ABSTRACT</h4> Bardet Biedl Syndrome (BBS) is an autosomal recessive disorder caused by mutations in at least 22 different genes. A constant feature is early onset retinal degeneration leading to blindness, with variable central obesity, polydactyly, renal failure, and developmental anomalies. BBS type 10 (BBS10) is a common form caused by mutations in the BBS10 gene encoding a chaperonin-like protein. There...

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Literature Corpus work: 31e13aab-1f01-5065-a126-f4f41ccf80d4
DOI: 10.1101/2022.01.19.476952

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