Carrier testing for autosomal-recessive disorders

Critical Reviews in Clinical Laboratory Sciences

Volumn 40, Issue 4, 2003, Pages 473-497

  Vallance, Hilary ^a   Ford, Jason ^b  

^a CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

^b BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

Author keywords

Ashkenazi Jewish; Bloom syndrome; Canavan disease; Cystic fibrosis; Familial Dysautonomia; Fanconi anemia; Gaucher disease; Niemann Pick disease; Prenatal; Screening; Tay Sachs disease; Thalassemia

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; AWARENESS; BLOOM SYNDROME; CANAVAN DISEASE; COMMUNITY CARE; CONSULTATION; CYSTIC FIBROSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; DISEASE CARRIER; DISEASE CLASSIFICATION; DISEASE SEVERITY; DNA DETERMINATION; DYSAUTONOMIA; FANCONI ANEMIA; GAUCHER DISEASE; GENE FREQUENCY; GENE MUTATION; GEOGRAPHIC DISTRIBUTION; HETEROZYGOTE DETECTION; HIGH RISK PATIENT; HIGH RISK POPULATION; HUMAN; INCIDENCE; LABORATORY TEST; NIEMANN PICK DISEASE; PRACTICE GUIDELINE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGENY; REVIEW; TAY SACHS DISEASE; THALASSEMIA;

BLOOM SYNDROME; CANAVAN DISEASE; CHROMOSOME DISORDERS; CYSTIC FIBROSIS; DYSAUTONOMIA, FAMILIAL; FANCONI ANEMIA; FEMALE; GAUCHER DISEASE; GENES, RECESSIVE; GENETIC SCREENING; GUIDELINES; HETEROZYGOTE DETECTION; HUMANS; MALE; NIEMANN-PICK DISEASES; TAY-SACHS DISEASE; THALASSEMIA;

EID: 0141676055     PISSN: 10408363     EISSN: None     Source Type: Journal    
DOI: 10.1080/10408360390247832     Document Type: Review

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