Molecular analysis using DHPLC of cystic fibrosis: Increase of the mutation detection rate among the affected population in Central Italy

BMC Medical Genetics

Volumn 5, Issue , 2004, Pages

  D'Apice, Maria Rosaria ^a   Gambardella, Stefano ^a   Bengala, Mario ^b   Russo, Silvia ^a   Nardone, Anna Maria ^b   Lucidi, Vincenzina ^c   Sangiuolo, Federica ^a,b   Novelli, Giuseppe ^a,b  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

CFTR mutation screening; Cystic fibrosis; DHPLC

Indexed keywords

CHLORIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; ARTICLE; CELL MEMBRANE; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; CYSTIC FIBROSIS; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EARLY DIAGNOSIS; ELECTROLYTE TRANSPORT; EPITHELIUM CELL; ETHNIC GROUP; EXON; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; HEALTH CARE ACCESS; HUMAN; HUMAN CELL; ITALY; LUNG DISEASE; MAJOR CLINICAL STUDY; MALE INFERTILITY; MEDICAL SPECIALIST; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PANCREAS EXOCRINE INSUFFICIENCY; PATHOGENESIS; POPULATION GENETICS; PROGNOSIS; SEQUENCE ANALYSIS; SWEAT; SYMPTOM;

5' UNTRANSLATED REGIONS; CHILD; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; COHORT STUDIES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC TESTING; HUMANS; INTRONS; ITALY; LEUKOCYTES; MUTATION; MUTATION, MISSENSE; NUCLEIC ACID DENATURATION; POLYMORPHISM, GENETIC; SEQUENCE DELETION;

EID: 2542428577     PISSN: 14712350     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2350-5-8     Document Type: Article

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