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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...

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Autori principali: Huber, Klaus Roland, Mirkovic, Borka, Nersesian, Rhea, Myers, Angela, Saiki, Randall, Bauer, Kurt
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2002
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC138794/
https://ncbi.nlm.nih.gov/pubmed/12437773
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1472-6890-2-4
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