Molecular diagnosis of cystic fibrosis in 93 argentinean patients and detection of heterozygotes in affected families. Impact on health services and therapeutic advances;Fibrosis quística: Diagnóstico molecular en 93 pacientes argentinos y detección familiar de portadores. Impacto asistencial y proyección a nuevos avances terapéuticos

Archivos Argentinos de Pediatria

Volumn 106, Issue 4, 2008, Pages 310-319

  Oller De Ramírez, Ana M ^a   Ghio, Addy ^a   De Botelli, Myrna Melano ^a   De Kremer, Raquel Dodelson ^a  

^a Hospital de Ninos de la Santisima Trinidad   (Argentina)

Author keywords

CFTR gene; Cystic fibrosis; Molecular diagnosis; Pharmacogenetic; Recessive autosomal

Indexed keywords

CFTR PROTEIN, HUMAN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ARGENTINA; ARTICLE; CHILD; CHILD HEALTH CARE; CYSTIC FIBROSIS; GENETICS; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HUMAN; NUCLEOTIDE SEQUENCE; POINT MUTATION; UTILIZATION REVIEW;

ADULT; ARGENTINA; CHILD; CHILD HEALTH SERVICES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; GENOTYPE; HAPLOTYPES; HETEROZYGOTE; HUMANS; POINT MUTATION;

EID: 50849087040     PISSN: 03250075     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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