Novel cystic fibrosis mutation involving deletion of exons 14b through 18 (CF?20kbdel14b.18) in a cystic fibrosis patient of German descent from upstate New York

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Shrimpton, Antony E ^a   Borowitz, Drucy ^b  

^a SUNY UPSTATE MEDICAL UNIVERSITY   (United States)

^b CHILDREN S HOSPITAL OF BUFFALO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 4243443226     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.13801101111     Document Type: Note

References (5)

1. Bozon D, Zielenski J, Rininsland F, Tsui L-C (1994) Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077R Y1092X, 2183AA→G. Hum Mutat 3:330-332.
2. Cystic Fibrosis Genetic Analysis Consortium (CFGAC) (1994) Population variation of common cystic fibrosis mutations. Human Mutat 4:167-177.
3. Morral N, Nunes V, Casals T, Cobos N, Asenio D, Dapena J, Estivill X (1993) Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): Identification of a 50 kilobase deletion. Human Molec Genet 2:677-681.
4. Morreau J, Sinaasappel M, Oostra BA, Hallet DJ (1988) Cystic fibrosis: Screening for a DNA deletion by field inversion gel electrophoresis. Human Genet 79:64-67.
5. Shrimpton AE, Borowitz D, Swender P (1997) Cystic fibrosis mutation frequencies in Upstate New York. Human Mutat (this issue).