Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

American Journal of Human Genetics

Volumn 74, Issue 1, 2004, Pages 176-179

  Groman, Joshua D ^a   Hefferon, Timothy W ^a   Casals, Teresa ^c   Bassas, Lluís ^d   Estivill, Xavier ^e   Des Georges, Marie ^f   Guittard, Caroline ^f   Koudova, Monika ^g   Fallin, M Daniele ^b   Nemeth, Krisztina ^h   Fekete, Gyorgy ^h   Kadasi, Ludovit ⁱ   Friedman, Ken ^j   Schwarz, Martin ^k   Bombieri, Cristina ^l   Pignatti, Pier Franco ^l   Kanavakis, Emmanuel ^m   Tzetis, Maria ^m   Schwartz, Marianne ⁿ   Novelli, Giuseppe ^o   D'Apice, Maria Rosaria ^o   Sobczynska Tomaszewska, Agnieszka ^p   Bal, Jerzy ^p   Stuhrmann, Manfred ^q   Macek Jr , Milan ^g   Claustres, Mireille ^e   Cutting, Garry R ^a,r   more..

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^c HOSPITAL DURAN I REYNALS   (Spain)

^d FUNDACIÓ PUIGVERT   (Spain)

^e CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^f MONTPELLIER UNIVERSITY HOSPITAL   (France)

^g UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^h SEMMELWEIS UNIVERSITY   (Hungary)

ⁱ INSTITUTE OF MOLECULAR PHYSIOLOGY AND GENETICS   (Slovakia)

^j UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^k ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^l UNIVERSITY OF VERONA   (Italy)

^m UNIVERSITY OF ATHENS   (Greece)

ⁿ Rigshospitalet   (Denmark)

^o UNIVERSITY OF ROME TOR VERGATA   (Italy)

^p INSTITUTE OF MOTHER AND CHILD   (Poland)

^q HANNOVER MEDICAL SCHOOL   (Germany)

^r JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

THYMIDINE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

AGENESIS; ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; MASS SCREENING; NUCLEOTIDE REPEAT; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; REGULATOR GENE; VAS DEFERENS;

EID: 9144235448     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/381001     Document Type: Article

References (10)

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2. Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG (1993) Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet 3:151-156
3. Cuppens H, Lin W, Jaspers M, Costes B, Teng H, Vankeerberghen A, Jorissen M, Droogmans G, Reynaert I, Goossens M, Nilius B, Cassiman JJ (1998) Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes: the polymorphic (TG)m locus explains the partial penetrance of the 5T polymorphism as a disease mutation. J Clin Invest 101:487-496
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8. Rosenstein BJ and Cutting GR (1998) The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr 132:589-95
9. Strom CM, Huang D, Buller A, Redman J, Crossley B, Anderson B, Entwistle T, Sun W (2002) Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples. Genet Med 4:289-296
10. Zielenski J, Patrizio P, Corey M, Handelin B, Markiewicz D, Asch R, Tsui LC (1995) CFTR gene variant for patients with congenital absence of vas deferens. Am J Hum Genet 57: 958-960