Mutational spectrum of cystic fibrosis patients from Córdoba province and its zone of influence: implications of molecular diagnosis in Argentina.

Ramírez, Ana María Oller; Ramos, María D; Jiménez, Javier; Ghio, Addy; de Botelli, Myrna Melano; Rezzónico, Carlos A; Marqués, Inés; Pereyro, Silvia; Casals, Teresa; de Kremer, Raquel Dodelson

Ramírez, Ana María Oller; Ramos, María D; Jiménez, Javier; Ghio, Addy; de Botelli, Myrna Melano; Rezzónico, Carlos A; Marqués, Inés; Pereyro, Silvia; Casals, Teresa; de Kremer, Raquel Dodelson.

Affiliation

Ramírez AM; Centro de Estudio de las Metabolopatías Congénitas, CEMECO, Cátedra de Clínica Pediátrica, Facultad de Ciencias Médicas, UNC, Hospital de Niños, Córdoba, Argentina. ramirezoller@agora.com.ar

Mol Genet Metab ; 87(4): 370-5, 2006 Apr.

Article in En | MEDLINE | ID: mdl-16423550

Subject(s)

Cystic Fibrosis Transmembrane Conductance Regulator/genetics; Cystic Fibrosis/genetics; Adult; Argentina; Child; Child, Preschool; Cystic Fibrosis/diagnosis; DNA Mutational Analysis; Female; Genetic Testing; Haplotypes; Humans; Infant; Infant, Newborn; Male; Microsatellite Repeats; Mutation

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Collection: 01-internacional Database: MEDLINE Main subject: Cystic Fibrosis Transmembrane Conductance Regulator / Cystic Fibrosis Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Country/Region as subject: America do sul / Argentina Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2006 Type: Article Affiliation country: Argentina

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