CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient
| Autor: | Jeffrey S.S. Kwok, Simon L.M. Fung, Chi-Bon Leung, Grace Lui, Michael Ho-Ming Chan, Nelson L.S. Tang, Eric L. K. Law |
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| Rok vydání: | 2011 |
| Předmět: |
Adult
Male Genetics Heterozygote Genotype business.industry DNA Mutational Analysis Mutation Missense Cystathionine beta-Synthase Pyridoxine Homocystinuria Gene mutation medicine.disease Pedigree Pathology and Forensic Medicine Asian People Vitamin B Complex medicine Humans Female business medicine.drug |
| Zdroj: | Pathology. 43:81-83 |
| ISSN: | 0031-3025 |
| DOI: | 10.1097/pat.0b013e3283419dbb |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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