Novel and recurrent mutations in WISP3 and an atypical phenotype
| Autor: | Sankar V. Hariharan, Kalpana Gowrishankar, M. L. Kulkarni, Anju Shukla, Kavitha Mohanasundaram, Ashwin Dalal, Meenakshi Bhat, Sumita Danda, Anju Gupta, A. Radha Ramadevi, Shubha R. Phadke, Shagun Aggarwal, Katta M. Girisha, Prajnya Ranganath, Akhil Muralidhar Kulkarni, Gandham SriLakshmi Bhavani, Hitesh Shah, Neerja Gupta, Sunita Bijarnia-Mahay, Madhulika Kabra, Sankaralingam Rajeswari, Ratna Dua Puri, Sheela Nampoothiri |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
Cartilage Articular Male Heterozygote Adolescent Gene Expression India Biology CCN Intercellular Signaling Proteins Text mining Genetics Humans Atypical phenotype Family Genetics (clinical) business.industry Homozygote Exons Introns Phenotype Amino Acid Substitution Mutation Female Joint Diseases business |
| Zdroj: | American Journal of Medical Genetics Part A. 167:2481-2484 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.37164 |
| Databáze: | OpenAIRE |
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