Cystic fibrosis in a southern Brazilian population: Characteristics of 90% of the alleles

Clinical Genetics

Volumn 72, Issue 3, 2007, Pages 218-223

  Faucz, Fábio R ^a,b,c   Gimenez, J ^c   Ramos, M D ^c   Pereira Ferrari, L ^b   Estivill, X ^d   Raskin, S ^a,b   Casals, T ^c   Culpi, L ^b  

^a PONTIFICAL CATHOLIC UNIVERSITY OF PARANÁ   (Brazil)

^b FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

^c HOSPITAL DURAN I REYNALS   (Spain)

^d CENTRE FOR GENOMIC REGULATION CRG   (Spain)

Author keywords

Brazilian CF population; CFTR gene; CFTR haplotypes; Cystic fibrosis; Mutation scanning

Indexed keywords

GENOMIC DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; ADULT; ARTICLE; BRAZIL; CAUCASIAN; CHILD; CYSTIC FIBROSIS; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA EXTRACTION; DNA FLANKING REGION; DNA SEQUENCE; EXON; FEMALE; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HAPLOTYPE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; POPULATION RESEARCH; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 34548133576     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00854.x     Document Type: Article

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