TY - JOUR
T1 - Evaluation of the disease liability of CFTR variants.
AU - Sosnay, Patrick R.
AU - Castellani, Carlo
AU - Corey, Mary
AU - Dorfman, Ruslan
AU - Zielenski, Julian
AU - Karchin, Rachel
AU - Penland, Christopher M.
AU - Cutting, Garry R.
N1 - Copyright:
MEDLINE® is the source for the citation and abstract of this record.
PY - 2011
Y1 - 2011
N2 - Over 1600 novel sequence variants in the CFTR gene have been reported to the CF Mutation Database (http://www.genet.sickkids.on.ca/cftr/Home.html). While about 25 mutations are well characterized by clinical studies and functional assays, the disease liability of most of the remaining mutations is either unclear or unknown. This gap in knowledge has implications for diagnosis, therapy selection, and counseling for patients and families carrying an uncharacterized CFTR mutation. This chapter will describe a critical approach to assessing the disease implications of CFTR mutations utilizing clinical data, literature review, functional testing, and bioinformatic in silico methods.
AB - Over 1600 novel sequence variants in the CFTR gene have been reported to the CF Mutation Database (http://www.genet.sickkids.on.ca/cftr/Home.html). While about 25 mutations are well characterized by clinical studies and functional assays, the disease liability of most of the remaining mutations is either unclear or unknown. This gap in knowledge has implications for diagnosis, therapy selection, and counseling for patients and families carrying an uncharacterized CFTR mutation. This chapter will describe a critical approach to assessing the disease implications of CFTR mutations utilizing clinical data, literature review, functional testing, and bioinformatic in silico methods.
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U2 - 10.1007/978-1-61779-120-8_21
DO - 10.1007/978-1-61779-120-8_21
M3 - Article
C2 - 21547743
AN - SCOPUS:80052553462
VL - 742
SP - 355
EP - 372
JO - Methods in Molecular Biology
JF - Methods in Molecular Biology
SN - 1064-3745
ER -