A synonymous mutation in the CFTR gene causes aberrant splicing in an Italian patient affected by a mild form of cystic fibrosis

Journal of Molecular Diagnostics

Volumn 12, Issue 3, 2010, Pages 380-383

  Faa, Valeria ^a   Coiana, Alessandra ^b   Incani, Federica ^b   Costantino, Lucy ^c   Cao, Antonio ^a   Rosatelli, Maria Cristina ^b  

^a CNR   (Italy)

^b UNIVERSITY OF CAGLIARI   (Italy)

^c Fondazione Policlinico Mangiagalli Regina Elena   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; DNA; ETHIDIUM BROMIDE; RNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; AGAR GEL ELECTROPHORESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CYSTIC FIBROSIS; DISEASE SEVERITY; DNA EXTRACTION; DNA POLYMORPHISM; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC SCREENING; GENETIC TRANSCRIPTION; HUMAN; RNA SPLICING;

EID: 77951744075     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2010.090126     Document Type: Article

References (26)

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