Novel cystic fibrosis mutation involving deletion of exons 14b through 18 (CF?20kbdel 14b-18) in a cystic fibrosis patient of German descent from Upstate New York
Antony E. Shrimpton,
Corresponding Author
Antony E. Shrimpton
Clinical Pathology, SUNY Health Science Center, Syracuse, New York
Clinical Pathology, SUNY Health Science Center, Syracuse, New York
Search for more papers by this author Drucy Borowitz,
Drucy Borowitz
Children's Hospital of Buffalo, Children's Lung and CF Center, Buffalo, New York
Search for more papers by this author
Antony E. Shrimpton,
Corresponding Author
Antony E. Shrimpton
Clinical Pathology, SUNY Health Science Center, Syracuse, New York
Clinical Pathology, SUNY Health Science Center, Syracuse, New York
Search for more papers by this author Drucy Borowitz,
Drucy Borowitz
Children's Hospital of Buffalo, Children's Lung and CF Center, Buffalo, New York
Search for more papers by this author
First published: 28 April 2011
No abstract is available for this article.
References
-
Bozon D,
Zielenski J,
Rininsland F,
Tsui L-C
(1994)
Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA→G.
Hum Mutat
3:
330–332.
-
Cystic Fibrosis Genetic Analysis Consortium (CFGAC)
(1994)
Population variation of common cystic fibrosis mutations.
Human Mutat
4:
167–177.
-
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.
-
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.
-
Shrimpton AE,
Borowitz D,
Swender P
(1997)
Cystic fibrosis mutation frequencies in Upstate
New York.
Human Mutat
(this issue).
