Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and ΔM1140

Human Mutation

Volumn 9, Issue 4, 1997, Pages 368-369

  Clavel, Christine ^a   Pennaforte, François ^a   Pigeon, Frédérique ^a   Verlingue, Claudine ^b   Birembaut, Philippe ^a   Férec, Claude ^b  

^a INSERM   (France)

^b Ctr Transfus Sang de Biogenetique   (France)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CYSTIC FIBROSIS; FRAMESHIFT MUTATION; FRANCE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; MAJOR CLINICAL STUDY; NUCLEIC ACID BASE SUBSTITUTION; POPULATION RESEARCH; PRIORITY JOURNAL;

ADULT; CHILD, PRESCHOOL; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; FEMALE; FRANCE; GENES; HUMANS; INFANT; MALE; MUTATION;

EID: 0030980990     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:4<368::AID-HUMU13>3.0.CO;2-0     Document Type: Article

References (6)

1. Audrézet MP, Mercier B, Guillermit H, Quéré I, Verlingue C, Rault G, Férec C (1993) Identification of 12 novel mutations in the CFTR gene. Hum Mol Genet 2:51-54.
2. Cystic Fibrosis Genetic Analysis Consortium (1994) Population variation of Common Cystic fibrosis Mutations. Hum Mutat 4:167-177.
3. Kerem BS, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC (1989) Identification of the Cystic Fibrosis Gene: Genetic analysis. Science 245:1073-1080.
4. Riordan JR, Rommens JM, Kerem BS, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, Drumm ML, Iannuzzi MC, Collins FS, Tsui LC (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245:1066-1073.
5. Rommens JM, Iannuzzi MC, Kerem BS, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, Zsiga M, Buchwald M, Riordan JR, Tsui LC, Collins FS (1989) Identification of the cystic fibrosis gene: Chromosome walking and jumping. Science 245:1059-1064.
6. Welsh MJ, Tsui LC, Boat TF, Beaudet AL (1995) Cystic fibrosis. In Criver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease. Vol. 3. New York: McGraw-Hill, pp 3799-3876.