Analysis of the CFTR gene in Iranian cystic fibrosis patients: Identification of eight novel mutations

Journal of Cystic Fibrosis

Volumn 7, Issue 2, 2008, Pages 102-109

  Alibakhshi, Reza ^a,b,c   Kianishirazi, Roya ^c   Cassiman, Jean Jacques ^b   Zamani, Mahdi ^a   Cuppens, Harry ^b  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c KERMANSHAH UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

c.2576delA; c.2752 1_2756delGGTGGCinsTTG; c.3850 24G > A; c.406 8T > C; CFTR; CFTRdele9; Cystic fibrosis; Direct sequencing; Iran; Mutations; p.A566D; p.T1036I; p.W1145R

Indexed keywords

ARGININE; ASPARTIC ACID; CYSTEINE; GLUTAMIC ACID; GLYCINE; HISTIDINE; ISOLEUCINE; LEUCINE; LYSINE; PHENYLALANINE; SERINE; THREONINE; TRANSMEMBRANE CONDUCTANCE REGULATOR; TRYPTOPHAN;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CAUCASIAN; CHILD; CYSTIC FIBROSIS; ETHNIC DIFFERENCE; EXON; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC SCREENING; GONADAL AGENESIS; HOMOZYGOSITY; HUMAN; HUMAN CELL; INFANT; INHERITANCE; INTRON; IRAN; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRENATAL DIAGNOSIS; RESTRICTION MAPPING; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; INFANT; IRAN; MALE; MUTATION; PREVALENCE; RETROSPECTIVE STUDIES;

EID: 40749095333     PISSN: 15691993     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jcf.2007.06.001     Document Type: Article

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