Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis

JIMD Reports

Volumn 6, Issue , 2012, Pages 1-6

  Nakagawa, Sachiko ^a   Zhan, Jie ^a   Sun, Wei ^a   Ferreira, Jose Carlos ^a   Keiles, Steven ^b   Hambuch, Tina ^b   Kammesheidt, Anja ^b   Mark, Brian L ^c   Schneider, Adele ^d   Gross, Susan ^a,e   Schreiber Agus, Nicole ^a,e  

^a JACOBI MEDICAL CENTER   (United States)

^b AMBRY GENETICS   (United States)

^c UNIVERSITY OF MANITOBA   (Canada)

^d ALBERT EINSTEIN MEDICAL CENTER   (United States)

^e ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

Ashkenazi jewish; Ashkenazi jewish ancestry; Carrier screening; HexA activity; HEXA gene

Indexed keywords

EID: 84988367855     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2011_120     Document Type: Chapter

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