Simple, rapid nonradioactive method to detect major cystic fibrosis mutations in Ashkenazi Jews

Clinical Chemistry

Volumn 42, Issue 1, 1996, Pages 103-105

  Avidor, Boaz ^a,c   Zakut, Haim ^a   Kerem, Batsheva ^b  

^a TEL AVIV UNIVERSITY   (Israel)

^b HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^c TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TETRAMETHYLAMMONIUM CHLORIDE;

ARTICLE; AUTORADIOGRAPHY; CHEMOLUMINESCENCE; CONTROLLED STUDY; CYSTIC FIBROSIS; DNA DETERMINATION; DOT HYBRIDIZATION; ETHNIC GROUP; HETEROZYGOTE; HUMAN; HUMAN TISSUE; JEW; MUTATION; OLIGONUCLEOTIDE PROBE; POLYMERASE CHAIN REACTION;

EID: 0030061664     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/42.1.103     Document Type: Article

References (9)

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2. Tsui LC. The spectrum of cystic fibrosis mutations. Trends Genet 1992;50: 222-8.
3. Shoshani T, Augarten A, Gazit E, Bashan N, Yahav Y, Rivlin Y, et al. Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel with presentation of severe disease. Am J Hum Genet 1992;50:222-8.
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8. Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan JR, et al. Genomic DNA sequence of the cystic librosis transmembrane conductance regulator (CFTR) gene. Genomics 1991;10:214-28.
9. Highsmith WE, Burch LH, Zhou Z, Olsen J, Boat T, Spock A, et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med 1994;331:947-80.