Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the Chinese Medical Association"
DOI: 10.1097/jcma.0000000000000011
Abstract: Background: Bardet-Biedl Syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder with a wide spectrum of clinical features. To date, mutations in 21 different genes (BBS1-21) have been identified as causing isolated or complex BBS… read more here.
Keywords: bbs7; chinese miao; bardet biedl; biedl syndrome ... See more keywords
A 5′ UTR Mutation Contributes to Down-Regulation of Bbs7 in the Berlin Fat Mouse
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232113018
Abstract: The Bardet–Biedl Syndrome 7 (Bbs7) gene was identified as the most likely candidate gene causing juvenile obesity in the Berlin Fat Mouse Inbred (BFMI) line. Bbs7 expression is significantly lower in the brain, adipose tissue,… read more here.
Keywords: fat mouse; bbs7; mouse; expression ... See more keywords