Diversity of cystic fibrosis mutation-screening practices [2]

American Journal of Human Genetics

Volumn 62, Issue 5, 1998, Pages 1252-1254

  Grody, W W ^a   Desnick, R J ^a   Carpenter, N J ^a   Noll, W W ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTIC FIBROSIS; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMAN; LABORATORY TEST; LETTER; PRIORITY JOURNAL;

EID: 0031960493     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301842     Document Type: Letter

References (12)

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2. Cystic Fibrosis Genetic Analysis Consortium Population variation of common cystic fibrosis mutations Hum Mutat 4 1994 167 177
3. JM DeMarchi AL Beaudet CT Caskey CS Richards Experience of an academic reference laboratory using automation for analysis of cystic fibrosis mutations Arch Pathol Lab Med 118 1994 26 32
4. CM Eng C Schechter J Robinowitz G Fulop T Burgert B Levy R Zinberg Prenatal genetic carrier testing using triple disease screening JAMA 278 1997 1268 1272
5. P Jezequel I Dorval P Fergelot B Chauvel A Le Treut JY Le Gall D Le Lannou Structural analysis of CFTR gene in congenital bilateral absence of vas deferens Clin Chem 41 1995 833 835
6. B-S Kerem JM Rommens JA Buchanan D Markiewicz TK Cox A Chakravarti M Buchwald Identification of the cystic fibrosis gene: genetic analysis Science 245 1989 1073 1080
7. S Kiesewetter M Macek C Davis SM Curristin CS Chu C Graham AE Shrimpton A mutation in CFTR produces different phenotypes depending on chromosomal background Nat Genet 5 1993 274 278
8. NIH Consensus Statement Online (1997) Genetic testing for cystic fibrosis. http://odp.od.nih.gov/consensus/statements/cdc/106/106_stmt.html (April)
9. M Ravnik-Glavac D Glavac M Dean Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene Hum Mol Genet 3 1994 801 807
10. AP Shuber LA Mchalowsky GS Nass J Skotetsky LM Hire SK Kotsopoulos MF Phipps High throughput parallel analysis of hundreds of patient samples for more than 100 mutations in multiple disease genes Hum Mol Genet 6 1997 337 347
11. J Wall S Cai FF Chehab A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratory Hum Mutat 5 1995 333 338
12. J Zielenski L-C Tsui Cystic fibrosis: genotypic and phenotypic variations Annu Rev Genet 29 1995 777 807