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Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

✍ Scribed by Scheidecker, S.; Etard, C.; Pierce, N. W.; Geoffroy, V.; Schaefer, E.; Muller, J.; Chennen, K.; Flori, E.; Pelletier, V.; Poch, O.; Marion, V.; Stoetzel, C.; Strahle, U.; Nachury, M. V.; Dollfus, H.

Book ID: 121397364
Publisher: BMJ Publishing Group
Year: 2013
Tongue: English
Weight: 530 KB
Volume: 51
Category: Article
ISSN: 0022-2593
DOI: 10.1136/jmedgenet-2013-101785

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