Improving accuracy of tay sachs carrier screening of the non-jewish population: Analysis of 34 carriers and six late-onset patients with hexa enzyme and dna sequence analysis

Pediatric Research

Volumn 67, Issue 2, 2010, Pages 217-220

  Park, Noh Jin ^a   Morgan, Craig ^a   Sharma, Rajesh ^a   Li, Yuanyin ^a   Lobo, Raynah M ^a   Redman, Joy B ^a   Salazar, Denise ^a   Sun, Weimin ^a   Neidich, Julie A ^a   Strom, Charles M ^a  

^a QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A; BETA N ACETYLHEXOSAMINIDASE ALPHA CHAIN; HEXA PROTEIN, HUMAN;

ALLELE; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DNA SEQUENCE; ENZYME ANALYSIS; ENZYME ASSAY; GENE SEQUENCE; HETEROZYGOTE DETECTION; HUMAN; MALE; MUTATION; POPULATION RESEARCH; PRIORITY JOURNAL; SCREENING; TAY SACHS DISEASE; ADULT; BLOOD; COMPARATIVE STUDY; ENZYMOLOGY; ETHNOLOGY; FEMALE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HETEROZYGOTE; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PREDICTION AND FORECASTING; SENSITIVITY AND SPECIFICITY;

ADULT; AGE OF ONSET; BETA-HEXOSAMINIDASE ALPHA CHAIN; CLINICAL ENZYME TESTS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HETEROZYGOTE; HUMANS; MALE; MUTATION; PHENOTYPE; PREDICTIVE VALUE OF TESTS; SENSITIVITY AND SPECIFICITY; TAY-SACHS DISEASE;

EID: 77449084881     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1203/PDR.0b013e3181c6e318     Document Type: Article

References (20)

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