No mutation in the gene for Noonan syndrome,PTPN11, in 18 patients with Costello syndrome
Autor: | Dagmar Wieczorek, Elke Hobbiebrunken, Birte Tröger, Almuth Caliebe, Peter Meinecke, Sabine Lüttgen, Andreas Gal, Berthold Streubel, Hanno J. Bolz, Peter Freisinger, M Stefanova, Zsuzsanna Almassy, Michel Morlot, Kerstin Kutsche |
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Rok vydání: | 2003 |
Předmět: |
Genetics
0303 health sciences medicine.medical_specialty business.industry 030305 genetics & heredity medicine.disease Osteochondrodysplasia Dermatology Genetic determinism PTPN11 03 medical and health sciences Costello syndrome Mutation (genetic algorithm) medicine Noonan syndrome business Gene Genetics (clinical) 030304 developmental biology |
Zdroj: | American Journal of Medical Genetics Part A. :82-84 |
ISSN: | 1552-4825 |
DOI: | 10.1002/ajmg.a.20122 |
Databáze: | OpenAIRE |
Externí odkaz: |