Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases

Human Mutation

Volumn 31, Issue 11, 2010, Pages 1240-1250

  Scott, Stuart A ^a   Edelmann, Lisa ^a   Liu, Liu ^a   Luo, Minjie ^a   Desnick, Robert J ^a   Kornreich, Ruth ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Ashkenazi Jewish; Carrier frequency; Carrier screening; Prenatal diagnosis; Residual risk

Indexed keywords

ARTICLE; ASHKENAZI JEW; BLOOM SYNDROME; CANAVAN DISEASE; CYSTIC FIBROSIS; DYSAUTONOMIA; FANCONI ANEMIA; FOUNDER EFFECT; GAUCHER DISEASE; GENE FREQUENCY; GENETIC SCREENING; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMAN; JEW; MAPLE SYRUP URINE DISEASE; MUCOLIPIDOSIS; NEMALINE MYOPATHY; NIEMANN PICK DISEASE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TAY SACHS DISEASE; USHER SYNDROME;

ALLELES; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENES, RECESSIVE; GENETIC DISEASES, INBORN; GENETIC TESTING; HETEROZYGOTE DETECTION; HUMANS; JEWS; MALE; NEW YORK CITY; PATIENT ACCEPTANCE OF HEALTH CARE; PREGNANCY; PRENATAL DIAGNOSIS; RISK FACTORS;

EID: 78049440186     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21327     Document Type: Article

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