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Novel mutations in BBS5 highlight the importance of this gene in non‐Caucasian Bardet–Biedl syndrome patients
Author(s) -
Hjortshøj Tina Duelund,
Grønskov Karen,
Philp Alisdair R.,
Nishimura Darryl Y.,
Adeyemo Adebowale,
Rotimi Charles N.,
Sheffield Val C.,
Rosenberg Thomas,
BrøndumNielsen Karen
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32136
Subject(s) - bardet–biedl syndrome , genetics , gene , medicine , biology , bioinformatics , pediatrics , phenotype
Tina Duelund Hjortshøj,* Karen Grønskov, Alisdair R. Philp, Darryl Y. Nishimura, Adebowale Adeyemo, Charles N. Rotimi, Val C. Sheffield, Thomas Rosenberg, and Karen Brøndum-Nielsen Kennedy Center, Medical Genetics Laboratory, Glostrup, Denmark Department of Paediatrics, Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa Department of Ophthalmology, Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa National Human Genome Center, Howard University, Washington, District of Columbia Kennedy Center, National Eye Clinic, Hellerup, Denmark