Cystic fibrosis patients from the black sea region: The 1677delTA mutation

Human Mutation

Volumn 3, Issue 4, 1994, Pages 353-357

  Angelicheva, D ^a   Boteva, K ^a   Jordanova, A ^a   Savov, A ^a   Kufardjieva, A ^b   Tolun, A ^c   Telatar, M ^c   Akarsubasi A ^c   Koprubasi F ^d   Aydogdu S ^d   Demirkol, M ^e   Kurdoglu G ^e   Constantinou Deltas C D ^f   Georgiou, C ^g   Dean, M ^h   Ivaschenko, T ^i,j   Baranov, V ^i,j   Kalaydjieva, L ^a  

^a University Hospital of Obstetrics and Gynecology 'Maichin Dom' Bulgaria   (Bulgaria)

^b University Children Hospital   (Bulgaria)

^c Bogadçi University ^*  (Turkey)

^d EGE UNIVERSITY   (Turkey)

^e ISTANBUL UNIVERSITY   (Turkey)

^f CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^g Archbishop Makarios III Hospital   (Cyprus)

^h NATIONAL CANCER INSTITUTE   (United States)

ⁱ Institute of Obstetrics and Gynaecology ^*  (Russian Federation)

^j NONE   (Russian Federation)

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Author keywords

Cystic fibrosis; Genotype phenotype correlation; Mutation; Population genetics of CF

Indexed keywords

AMINOTRANSFERASE; DNA; PANCREAS ENZYME;

ARTICLE; CHROMOSOME; CYSTIC FIBROSIS; DISEASE COURSE; EXON; GENE; GENE DELETION; GENE MUTATION; HAPLOTYPE; HUMAN; LUNG DISEASE; MAJOR CLINICAL STUDY; MECONIUM ILEUS; MORTALITY; PANCREAS INSUFFICIENCY; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SWEAT TEST;

BULGARIA; CYPRUS; CYSTIC FIBROSIS; DNA MUTATIONAL ANALYSIS; EPIDEMIOLOGY, MOLECULAR; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENOTYPE; GEORGIA (REPUBLIC); GYPSIES; HAPLOTYPES; HUMAN; INFANT; MALE; PHENOTYPE; RUSSIA; SEQUENCE DELETION; SUPPORT, NON-U.S. GOV'T; TURKEY;

EID: 0028305090     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380030405     Document Type: Article

References (16)

1. Five years experience of prenatal diagnosis of cyttic fibrosis in the former USSR
2. Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients
3. Dell:508 cystic fibrosis mutation appears very infrequently in the Greek‐Cypriot community of Cyprus
4. Correlation between genotype and phenotype in cystic fibrosis patients: Analysis of seven common mutations
5. Characterization and rapid diagnostic analysis of DNA polymorphismsclosely linked to the cystic fibrosis locus
6. Polymcrasc chain reaction for detection of the pM6d‐9/Mspl RFLP, a marker closely linked to the cystic fibrosis mutation
7. A deletion of two nucleotides in exon 10 of the CFTR gene in a Soviet family with cystic fibrosis causing early infant death
8. Molecular data on cystic fibrosis in Bulgaria
9. Identification of the cystic fibrosis gene: Genetic analysis
10. CA/GT microstaellite alleles within the CFTR gene are not generared by unequal crossing over
11. Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
12. Rapid nonradioaetive detection of the major CF mutation
13. DNA amplification for detection of the XV‐2c polymorphism linked to cystic fibrosis
14. Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis
15. A deletion mutation of the CFTR locus: dell507