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Next-Generation Dna Sequencing Of Hexa: A Step In The Right Direction For Carrier Screening

Jodi D Hoffman,Valerie Greger,Erin T Strovel,Miriam G Blitzer,Mark A Umbarger,Caleb Kennedy,Brian Bishop,Patrick Saunders,Gregory J Porreca,Jaclyn Schienda,Jocelyn Davie,Stephanie Hallam,Charles Towne

MOLECULAR GENETICS & GENOMIC MEDICINE（2013）

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关键词
Ethnic-based screening, genetic screening, hexosaminidase A, next-generation DNA sequencing, Tay-Sachs disease
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