Enhanced Carrier Screening for Spinal Muscular Atrophy: Detection of Silent (SMN1: 2 + 0) Carriers Utilizing a Novel TaqMan Genotyping Method.
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| Title: | Enhanced Carrier Screening for Spinal Muscular Atrophy: Detection of Silent (SMN1: 2 + 0) Carriers Utilizing a Novel TaqMan Genotyping Method. |
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| 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 |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 31875889 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Enhanced Carrier Screening for Spinal Muscular Atrophy: Detection of Silent (SMN1: 2 + 0) Carriers Utilizing a Novel TaqMan Genotyping Method. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Azad+AK%22">Azad AK</searchLink>; Department of Pathology, Montefiore Medical Center at Albert Einstein College of Medicine, Bronx, New York.<br /><searchLink fieldCode="AU" term="%22Huang+CK%22">Huang CK</searchLink>; Department of Pathology, Montefiore Medical Center at Albert Einstein College of Medicine, Bronx, New York.<br /><searchLink fieldCode="AU" term="%22Jin+H%22">Jin H</searchLink>; Department of Pathology, Montefiore Medical Center at Albert Einstein College of Medicine, Bronx, New York.<br /><searchLink fieldCode="AU" term="%22Zou+H%22">Zou H</searchLink>; Insight Medical Genetics, Chicago, Illinois.<br /><searchLink fieldCode="AU" term="%22Yanakakis+L%22">Yanakakis L</searchLink>; Insight Medical Genetics, Chicago, Illinois.<br /><searchLink fieldCode="AU" term="%22Du+J%22">Du J</searchLink>; Department of Pathology, Montefiore Medical Center at Albert Einstein College of Medicine, Bronx, New York.<br /><searchLink fieldCode="AU" term="%22Fiddler+M%22">Fiddler M</searchLink>; Insight Medical Genetics, Chicago, Illinois.<br /><searchLink fieldCode="AU" term="%22Naeem+R%22">Naeem R</searchLink>; Department of Pathology, Montefiore Medical Center at Albert Einstein College of Medicine, Bronx, New York.<br /><searchLink fieldCode="AU" term="%22Goldstein+Y%22">Goldstein Y</searchLink>; Department of Pathology, Montefiore Medical Center at Albert Einstein College of Medicine, Bronx, New York. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220250641%22">Laboratory medicine</searchLink> [Lab Med] 2020 Jul 08; Vol. 51 (4), pp. 408-415. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>0250641 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1943-7730 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200075027%22">00075027 </searchLink><i>NLM ISO Abbreviation: </i>Lab Med <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=31875889 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1093/labmed/lmz088 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 408 Titles: – TitleFull: Enhanced Carrier Screening for Spinal Muscular Atrophy: Detection of Silent (SMN1: 2 + 0) Carriers Utilizing a Novel TaqMan Genotyping Method. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Azad AK – PersonEntity: Name: NameFull: Huang CK – PersonEntity: Name: NameFull: Jin H – PersonEntity: Name: NameFull: Zou H – PersonEntity: Name: NameFull: Yanakakis L – PersonEntity: Name: NameFull: Du J – PersonEntity: Name: NameFull: Fiddler M – PersonEntity: Name: NameFull: Naeem R – PersonEntity: Name: NameFull: Goldstein Y IsPartOfRelationships: – BibEntity: Dates: – D: 08 M: 07 Text: 2020 Jul 08 Type: published Y: 2020 Identifiers: – Type: issn-electronic Value: 1943-7730 Numbering: – Type: volume Value: 51 – Type: issue Value: 4 Titles: – TitleFull: Laboratory medicine Type: main |
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