| Autor: |
Lynn Wang, Y., Chen, Ke-Lian, Joshi, Indira, Kotloff, Robert M., Leonard, Debra G.B., Wilson, Robert B. |
| Zdroj: |
Molecular Diagnosis; January 1997, Vol. 2 Issue: 3 p205-208, 4p |
| Abstrakt: |
More than 600 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been described; however, at least 50% of the disease-associated mutations in the African-American population remain unknown. Reported here is a novel missense mutation, R1283S, in a 47-year-old African-American patient with mild cystic fibrosis. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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