Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain
| Autor: | Gabriela M. Repetto, Valérie Cormier-Daire, María Luisa Martínez-Frías, Silvia Pintos de Pons, Robert Pogue, Nadia Ehtesham, Cristina Bazán de Casella, Roque Carrero-Valenzuela, Solange Heuertz, Daniel H. Cohn |
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| Rok vydání: | 2005 |
| Předmět: |
Male
DNA Mutational Analysis Argentina Biology Osteochondrodysplasias Identity by descent Polymorphism Single Nucleotide Polymorphism (computer science) Intellectual Disability Genetics medicine Humans Abnormalities Multiple Chile Gene Genetics (clinical) Growth Disorders Family Health Haplotype Intracellular Signaling Peptides and Proteins Proteins Syndrome Smith McCort dysplasia medicine.disease Pedigree Haplotypes Dysplasia Spain Mutation (genetic algorithm) Mutation Guam Female |
| Zdroj: | American journal of medical genetics. Part A. 138(1) |
| ISSN: | 1552-4825 |
| Databáze: | OpenAIRE |
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