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Mutation / Rare diseases / Tay–Sachs disease / Cystic fibrosis / ΔF508 / Point mutation / Ashkenazi Jews / Nonsense mutation / Medical genetics of Jewish people / Biology / Health / Genetics


Am. J. Hum. Genet. 51:[removed], 1992 Screening for Five Mutations Detects 97% of Cystic Fibrosis (CF)
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City

Jerusalem / Baltimore / New York / /

Company

Polesky HF / FMC / European Working Group / Tsui LC / McGraw-Hill / Miller SA / HphI / Merck / Cox / Ashkenazi / Harcourt Brace Jovanovich / /

Continent

North America / Europe / /

Country

Italy / Iran / Turkey / United States / Israel / Iraq / /

Currency

USD / /

Facility

Hadassah Hebrew University Hospital / Hadassah University Hospital / National Institute of Health Workshop / /

IndustryTerm

protein product / carrier frequency / carrier screening / polymerase chain / /

MedicalCondition

common disease / Fibrocystic disease / common recessive disorder / French cystic fibrosis / cystic fibrosis transmembrane conductance regulator / Cystic Fibrosis / severe disease / Introduction Cystic fibrosis / Tay-Sachs disease / Jewish cystic fibrosis / inherited disease / frequent lethal inherited disorders / genetic disorders / /

Organization

Department of Human Genetics and TInstitute of Pulmonology / National Institute of Health / American Society of Human Genetics / Department of Pediatrics / Hebrew University Hospital / Johns Hopkins University School of Medicine / Hadassah University Hospital / NIH Advisory Panel / Department of Human Genetics / /

Person

W. E. Highsmith / Tirza Cohen / Iris Pashut Lavon / Chaim Springer / Garry R. Cuttingt / Pace R. Richard / /

Position

candidate for CF heterozygote - screening / Major / /

ProvinceOrState

Quebec / New York / /

Region

northern Europe / southern Europe / Mediterranean / /

Technology

Genomics / hybridization / directed mutagenesis / Cloning / gel electrophoresis / /

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