Evaluation of the Disease Liability of CFTR Variants

Methods in Molecular Biology

Volumn 742, Issue , 2011, Pages 355-372

  Sosnay, Patrick R ^a   Castellani, Carlo ^b   Corey, Mary ^c   Dorfman, Ruslan ^c   Zielenski, Julian ^c   Karchin, Rachel ^d   Penland, Christopher M ^e   Cutting, Garry R ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Civile Maggiore Hospital   (Italy)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d Johns Hopkins University   (United States)

^e CYSTIC FIBROSIS FOUNDATION   (United States)

Author keywords

bioinformatic analysis; CFTR mutations; CFTR polymorphisms; CFTR variants; genotype phenotype relationship; in silico testing; mutation prediction algorithms

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALGORITHM; ARTICLE; BIOLOGICAL MODEL; BIOLOGY; CELL MEMBRANE POTENTIAL; CYSTIC FIBROSIS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC DATABASE; GENETIC POLYMORPHISM; GENETICS; GENOTYPE; HOMOZYGOTE; HOSPITALIZATION; HUMAN; MALE; METABOLISM; METHODOLOGY; MUTATION; PATHOPHYSIOLOGY; PHENOTYPE; RNA STABILITY; SEX DIFFERENCE; UTILIZATION REVIEW;

ALGORITHMS; COMPUTATIONAL BIOLOGY; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DATABASES, GENETIC; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HOMOZYGOTE; HUMANS; MALE; MEMBRANE POTENTIALS; MODELS, GENETIC; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; RNA STABILITY; SEVERITY OF ILLNESS INDEX; SEX FACTORS;

EID: 80052553462     PISSN: 10643745     EISSN: 19406029     Source Type: Book Series    
DOI: 10.1007/978-1-61779-120-8_21     Document Type: Chapter

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