Screening for single gene genetic disease

Gynecologic and Obstetric Investigation

Volumn 60, Issue 1, 2005, Pages 19-26

  Musci, Thomas J ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CALIFORNIA PACIFIC MEDICAL CENTER   (United States)

Author keywords

Carrier screening; Prenatal screening; Recessive disease

Indexed keywords

GANGLIOSIDE GM2;

AUTOSOMAL RECESSIVE DISORDER; BLOOM SYNDROME; CANAVAN DISEASE; CYSTIC FIBROSIS; DIAGNOSTIC APPROACH ROUTE; DYSAUTONOMIA; ETHNOLOGY; FANCONI ANEMIA; FRAGILE X SYNDROME; GAUCHER DISEASE; GENE MUTATION; GENETIC SCREENING; GM2 GANGLIOSIDOSIS; HEMOGLOBINOPATHY; HETEROZYGOSITY; HUMAN; MUCOLIPIDOSIS; NIEMANN PICK DISEASE; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; REVIEW; SCREENING TEST; SICKLE CELL TRAIT; TAY SACHS DISEASE;

CYSTIC FIBROSIS; FEMALE; FETAL DISEASES; FRAGILE X SYNDROME; GENETIC DISEASES, INBORN; GENETIC SCREENING; HUMANS; PRACTICE GUIDELINES; PREGNANCY; PRENATAL DIAGNOSIS; RISK ASSESSMENT;

EID: 23244449902     PISSN: 03787346     EISSN: None     Source Type: Journal    
DOI: 10.1159/000083481     Document Type: Review

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