Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

Human Genetics

Volumn 89, Issue 6, 2004, Pages 653-658

  Osborne, L ^a   Santis, G ^a   Schwarz, M ^b   Klinger, K ^c   Dork T ^d   McIntosh, I ^e   Schwartz, M ^f   Nunes, V ^g   Macek Jr , M ^h   Reiss, J ⁱ   Highsmith Jr , W E ^j   McMahon, R ^k   Novelli, G ^l   Malik, N ^m   Burger J ^h   Anvret, M ⁿ   Wallace, A ^o   Williams, C ^p   Mathew, C ^q   Rozen, R ^r   Graham, C ^s   Gasparini, P ^t   Bal, J ⁱ   Cassiman, J J ^u   Balassopoulou, A ^v   Davidow, L ^w   Raskin, S ^x   Kalaydjieva, L ^y   Kerem, B ^z   Richards, S ^aa   Simon Bouy, B ^ab   Super, M ^b   Wulbrand, U ^d   Keston, M ^e   Estivill, X ^g   Vavrova, V ^ac   Friedman, K J ^j   Barton, D ^k   Dallapiccola, B ^l   Stuhrmann, M ^h   Beards, F ^q   Hill, A J M ^s   Pignatti, P F ^t   Cuppens, H ^u   Angelicheva, D ^y   Tummler B ^d   Brock, D J H ^e   Casals, T ^g   Macek, M ^ac   Schmidtke, J ^d   Magee, A C ^s   Bonizzato, A ^t   De Boeck, C ^u   Kuffardjieva, A ^y   Hodson, M ^a   Knight, R A ^a   more..

^a NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^b ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^c Integrated Genetics   (United States)

^d HANNOVER MEDICAL SCHOOL   (Germany)

^e UNIVERSITY OF EDINBURGH   (United Kingdom)

^f Rigshospitalet   (Denmark)

^g HOSPITAL DURAN I REYNALS   (Spain)

^h FREIE UNIVERSITÄT BERLIN   (Germany)

ⁱ UNIVERSITY OF GÖTTINGEN   (Germany)

^j UNIVERSITY OF NORTH CAROLINA HOSPITALS   (United States)

^k UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^l UNIVERSITY OF ROME TOR VERGATA   (Italy)

^m Molekulargenetisches Labor Basler Kinderspital   (Switzerland)

ⁿ KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^o ST MARY S HOSPITAL   (United Kingdom)

^p IMPERIAL COLLEGE LONDON   (United Kingdom)

^q KING'S COLLEGE LONDON   (United Kingdom)

^r RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^s BELFAST CITY HOSPITAL   (United Kingdom)

^t UNIVERSITY OF VERONA   (Italy)

^u UNIVERSITY OF LEUVEN   (Belgium)

^v UNIVERSITY OF ATHENS   (Greece)

^w Diagnostic Services Division   (United States)

^x VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^y Laboratory of Molecular Pathology   (Bulgaria)

^z HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^aa GeneScreen Inc   (United States)

^ab INSERM   (France)

^ac CHARLES UNIVERSITY   (Czech Republic)

more..

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEOTIDE;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CHROMOSOME; CLINICAL FEATURE; CYSTIC FIBROSIS; ETHNIC GROUP; EUROPE; GENE EXPRESSION; GENE MUTATION; GENETIC MARKER; GEOGRAPHIC DISTRIBUTION; HUMAN; INCIDENCE; INFANT; LUNG DISEASE; MAJOR CLINICAL STUDY; PANCREAS; PRIORITY JOURNAL; UNITED STATES;

BASE SEQUENCE; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENE EXPRESSION; HAPLOTYPES; HUMAN; INCIDENCE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; SUPPORT, NON-U.S. GOV'T;

EID: 0026793363     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/BF00221957     Document Type: Article

References (23)

1. Simple non-radioactive detection of the CFTR mutation N1303K by artificial creation of a restriction site
2. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein
3. Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease
4. Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients
5. Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis
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7. Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2
8. A 3′ splice site consensus sequence mutation in the cystic fibrosis gene
9. Two frameshift mutations in the cystic fibrosis gene
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11. Identification of the cystic fibrosis gene: genetic analysis
12. Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene
13. The relation between genotype and phenotype in cystic fibrosis-analysis of the most common mutation (δF508)
14. Methods for analysis of multiple cystic fibrosis mutations
15. A mutation in the second nucleotide-binding fold of the cystic fibrosis gene
16. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA
17. Linked marker haplotypes and the δF508 mutation in adults with mild pulmonary disease and cystic fibrosis
18. Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis
19. A termination mutation (W1282X). the most common mutation in the Jewish Ashkenazi CF patients in Israel, is associated with a severe disease presentation
20. Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis
21. A frame-shift mutation in the cystic fibrosis gene
22. Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444de1A), an Italian (CF2522insC), and a Soviet (CF3821delT)
23. Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene