Cystic Fibrosis

Amos, Jean A.

doi:10.1007/978-0-387-33227-7_10

Jean A. Amos PhD⁸

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Abstract

Cystic fibrosis (CF) is the most common lethal autosomal recessive disease in whites, with an estimated incidence of 1 in 2500 to 3300 live births. Approximately 30,000 children and adults in the United States are affected and approximately 850 individuals are newly diagnosed annually, the majority less than 1 year old. For a current, comprehensive review of clinical CF and molecular diagnostics for this disorder, see http://www.genetests.org/.

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References

Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ. Laboratory standards and guidelines for populationbased cystic fibrosis carrier screening. Genet Med. 2001;3:149–154.
PubMed CAS Google Scholar
Heim RA, Sugarman EA, Allitto BA. Improved detection of cystic fibrosis mutations in the heterogeneous U. SA. population using an expanded, pan-ethnic mutation panel. Genet Med. 2001;3:168–176.
PubMed CAS Google Scholar
Watson MS, Desnick RJ, Grody WW, Mennuti MT, Popovich BW, Richards CS. Cystic fibrosis carrier screening: Issues in implementation. Genet Med. 2002;4:407–409.
PubMed Google Scholar
Rohlfs EM, Zhou Z, Sugarman EA. The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis. Genet Med. 2002;4:319–323.
PubMed CAS Google Scholar
Richards CS, Bradley LA, Amos J, et al. Standards and guidelines for CFTR mutation testing [erratum in: Genet Med. 2002;4:471]. Genet Med. 2002;4:379–391.
Article PubMed Google Scholar

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Authors and Affiliations

Department of Human Genetics, Focus Diagnostics, Cypress, CA, 90630, USA
Jean A. Amos PhD (Scientific Director)

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Jean A. Amos PhD
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Editors and Affiliations

Department of Pathology and Laboratory Medicine, Weill Medical College of Cornell University and New York Presbyterian Hospital, New York, NY, 10021, USA
Debra G. B. Leonard MD, PhD (Professor and Vice Chair for Laboratory Medicine) (Professor and Vice Chair for Laboratory Medicine)
Hematology, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA
Adam Bagg MD (Director) (Director)
Department of Pathology and Laboratory Medicine, Emory University Hospital, Atlanta, GA, 30322, USA
Angela M. Caliendo MD, PhD (Vice Chair and Associate Professor) (Vice Chair and Associate Professor)
Northwestern University Feinberg School of Medicine, Evanston, IL, 60201
Karen L. Kaul MD, PhD (Professor) (Professor)
Department of Pathology and Laboratory Medicine, Evanston Northwestern Healthcare, Evanston, IL, 60201, USA
Karen L. Kaul MD, PhD (Professor) (Professor)
Molecular Pathology Laboratory, Department of Pathology and Laboratory Medicine, University of Pennsylvania Health System, Philadelphia, PA, 19104, USA
Vivianna M. Van Deerlin MD, PhD (Director) (Director)

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Amos, J.A. (2007). Cystic Fibrosis. In: Leonard, D.G.B., Bagg, A., Caliendo, A.M., Kaul, K.L., Van Deerlin, V.M. (eds) Molecular Pathology in Clinical Practice. Springer, New York, NY. https://doi.org/10.1007/978-0-387-33227-7_10

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DOI: https://doi.org/10.1007/978-0-387-33227-7_10
Publisher Name: Springer, New York, NY
Print ISBN: 978-0-387-33226-0
Online ISBN: 978-0-387-33227-7
eBook Packages: MedicineMedicine (R0)

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