Novel mutations inBBS5highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients
| Autor: | Charles N. Rotimi, Tina Duelund Hjortshøj, Darryl Y. Nishimura, Karen Grønskov, Adebowale Adeyemo, Val C. Sheffield, Thomas Rosenberg, Alisdair R. Philp, Karen Brøndum-Nielsen |
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| Rok vydání: | 2008 |
| Předmět: |
DNA Mutational Analysis
Molecular Sequence Data BBS5 Biology medicine.disease_cause Bardet–Biedl syndrome Databases Genetic Research Letter Genetics medicine Humans Family Amino Acid Sequence Genetic Testing Bardet-Biedl Syndrome Gene Conserved Sequence Genetics (clinical) Laurence-Moon-Bardet-Biedl Syndrome Genetic testing Mutation medicine.diagnostic_test Racial Groups Proteins Nutritional status Phosphate-Binding Proteins medicine.disease Cytoskeletal Proteins |
| Zdroj: | American Journal of Medical Genetics. Part a |
| ISSN: | 1552-4833 1552-4825 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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