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Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.

Microsatellite analysis of chromosomes carrying particular cystic fibrosis mutations has shown different haplotypes in four cases: R334W, R347P, R1162X, and 3849 + 10kbC-->T. To investigate the possibility of recurrence of these mutations, analysis of intra- and extragenic markers flanking these...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Morral, N., Llevadot, R., Casals, T., Gasparini, P., Macek, M., Dörk, T., Estivill, X.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1994
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918346/
https://ncbi.nlm.nih.gov/pubmed/7526685
Etiketak: Etiketa erantsi
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