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Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project.

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第一作者： Farshad,Niri

第一单位： Alberta Newborn Screening Laboratory, Alberta Precision Laboratories, Edmonton, AB T6G 2H7, Canada.;Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.

作者： Farshad,Niri ^[1] ; Jessie,Nicholls ^[2] ; Kelly,Baptista Wyatt ^[1] ; Christine,Walker ^[3] ; Tiffany,Price ^[4] ; Rhonda,Kelln ^[1] ; Stacey,Hume ^[5] ; Jillian,Parboosingh ^[6] ; Margaret,Lilley ^[1] ; Hanna,Kolski ^[7] ; Ross,Ridsdale ^[1] ; Andrew,Muranyi ^[1] ; Jean K,Mah ^[4] ; Dennis E,Bulman ^[8]

作者单位： Alberta Newborn Screening Laboratory, Alberta Precision Laboratories, Edmonton, AB T6G 2H7, Canada.;Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada. ^[1] Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada. ^[2] Alberta Newborn Screening Laboratory, Alberta Precision Laboratories, Edmonton, AB T6G 2H7, Canada. ^[3] Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada. ^[4] Department of Pathology and Laboratory Medicine, University of British Colombia, Vancouver, BC V6H 3N1, Canada. ^[5] Department of Medical Genetics, University of Calgary, Calgary, AB T2N 4N2, Canada. ^[6] Department of Pediatrics, University of Alberta, Edmonton, AB T6G 1C9, Canada. ^[7] Alberta Newborn Screening Laboratory, Alberta Precision Laboratories, Edmonton, AB T6G 2H7, Canada.;Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.;Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada. ^[8]

关键词 SMA SMN1 gene therapy multiplex qPCR newborn screening

DOI 10.3390/ijns9030042

PMID 37606479

发布时间 2023-08-24

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International journal of neonatal screening

2023年9卷3期

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International journal of neonatal screening

2023年9卷3期

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Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project.

International journal of neonatal screening

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International journal of neonatal screening

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