Enhanced Carrier Screening for Spinal Muscular Atrophy: Detection of Silent (SMN1: 2 + 0) Carriers Utilizing a Novel TaqMan Genotyping Method.

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Bibliographic Details
Title: Enhanced Carrier Screening for Spinal Muscular Atrophy: Detection of Silent (SMN1: 2 + 0) Carriers Utilizing a Novel TaqMan Genotyping Method.
Authors: Azad AK; Department of Pathology, Montefiore Medical Center at Albert Einstein College of Medicine, Bronx, New York., Huang CK; Department of Pathology, Montefiore Medical Center at Albert Einstein College of Medicine, Bronx, New York., Jin H; Department of Pathology, Montefiore Medical Center at Albert Einstein College of Medicine, Bronx, New York., Zou H; Insight Medical Genetics, Chicago, Illinois., Yanakakis L; Insight Medical Genetics, Chicago, Illinois., Du J; Department of Pathology, Montefiore Medical Center at Albert Einstein College of Medicine, Bronx, New York., Fiddler M; Insight Medical Genetics, Chicago, Illinois., Naeem R; Department of Pathology, Montefiore Medical Center at Albert Einstein College of Medicine, Bronx, New York., Goldstein Y; Department of Pathology, Montefiore Medical Center at Albert Einstein College of Medicine, Bronx, New York.
Source: Laboratory medicine [Lab Med] 2020 Jul 08; Vol. 51 (4), pp. 408-415.
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0250641 Publication Model: Print Cited Medium: Internet ISSN: 1943-7730 (Electronic) Linking ISSN: 00075027 NLM ISO Abbreviation: Lab Med Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1943-7730
DOI:10.1093/labmed/lmz088