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Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.

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第一作者: Aashish N,Adhikari
第一单位: Department of Plant and Microbial Biology, University of California, Berkeley, CA 94720, USA.
作者单位: Department of Plant and Microbial Biology, University of California, Berkeley, CA 94720, USA. [1] Department of Pediatrics, University of California, San Francisco, CA 94158 USA. [2] Genetic Disease Screening Program, California Department of Public Health, Richmond, CA 94804, USA. [3] Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA. [4] Invitae, San Francisco, CA 94103, USA. [5] Innovation Labs, Tata Consultancy Services, Hyderabad 500081, India. [6] Institute for Human Genetics, University of California, San Francisco, CA 94153, USA.;Cardiovascular Research Institute, University of California, San Francisco, CA 94153, USA.;Department of Dermatology, University of California, San Francisco, CA 94153, USA. [7] Department of Plant and Microbial Biology, University of California, Berkeley, CA 94720, USA.;Institute for Human Genetics, University of California, San Francisco, CA 94153, USA.;Center for Computational Biology, University of California, Berkeley, CA 94720, USA.;Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, CA 94158, USA. [8] Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.;Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA. [9] Department of Pediatrics, University of California, San Francisco, CA 94158 USA.;Institute for Human Genetics, University of California, San Francisco, CA 94153, USA.;Cardiovascular Research Institute, University of California, San Francisco, CA 94153, USA.;UCSF Benioff Children's Hospital, Division of Allergy, Immunology and Blood and Marrow Transplantation, San Francisco, CA 94153, USA. [10] Department of Pediatrics, University of California, San Francisco, CA 94158 USA.;Institute for Human Genetics, University of California, San Francisco, CA 94153, USA. [11]
DOI 10.3390/ijns6020041
PMID 32802992
发布时间 2020-09-28
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International journal of neonatal screening

International journal of neonatal screening

2020年6卷2期

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