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Survey of CF mutations in the clinical laboratory
BACKGROUND: Since it is impossible to sequence the complete CFTR gene routinely, clinical laboratories must rely on test systems that screen for a panel of the most frequent mutations causing disease in a high percentage of patients. Thus, in a cohort of 257 persons that were referred to our laborat...
Autores principales: | Huber, Klaus Roland, Mirkovic, Borka, Nersesian, Rhea, Myers, Angela, Saiki, Randall, Bauer, Kurt |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2002
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC138794/ https://www.ncbi.nlm.nih.gov/pubmed/12437773 http://dx.doi.org/10.1186/1472-6890-2-4 |
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