Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: Should the rationale for mutation choice for screening be reevaluated?

Prenatal Diagnosis

Volumn 28, Issue 3, 2008, Pages 236-241

  Fares, Fuad ^a   Badarneh, Khader ^a   Abosaleh, Mohamed ^a   Harari Shaham, Amalia ^a   Diukman, Roni ^a   David, Miriam ^a  

^a UNIVERSITY OF HAIFA   (Israel)

Author keywords

Ashkenazi Jews; Genetic counseling; Hereditary disorders

Indexed keywords

ADULT; ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; ASHKENAZI JEW; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BLOOM SYNDROME; CANAVAN DISEASE; CYSTIC FIBROSIS; DATA BASE; DYSAUTONOMIA; FANCONI ANEMIA; FANCONI ANEMIA TYPE C; FEMALE; GAUCHER DISEASE; GENOTYPE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HIGH RISK POPULATION; HUMAN; ISRAEL; JEW; MAJOR CLINICAL STUDY; MALE; MUCOLIPIDOSIS; MUCOLIPIDOSIS TYPE 4; NIEMANN PICK DISEASE; PRENATAL SCREENING; PRIORITY JOURNAL; RISK ASSESSMENT;

FEMALE; GENES, RECESSIVE; GENETIC DISEASES, INBORN; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; JEWS; MALE; MUTATION;

EID: 41149144099     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1943     Document Type: Article

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