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Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.
Wakeling, Matthew Neil; Laver, Thomas William; Wright, Caroline Fiona; De Franco, Elisa; Stals, Karen Lucy; Patch, Ann-Marie; Hattersley, Andrew Tym; Flanagan, Sarah Elizabeth; Ellard, Sian.
Affiliation
  • Wakeling MN; Institute of Biomedical & Clinical Science, University of Exeter, Exeter, UK. m.wakeling@exeter.ac.uk.
  • Laver TW; Institute of Biomedical & Clinical Science, University of Exeter, Exeter, UK.
  • Wright CF; Institute of Biomedical & Clinical Science, University of Exeter, Exeter, UK.
  • De Franco E; Institute of Biomedical & Clinical Science, University of Exeter, Exeter, UK.
  • Stals KL; Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
  • Patch AM; QIMR Berghofer, Herston, Queensland, Australia.
  • Hattersley AT; Institute of Biomedical & Clinical Science, University of Exeter, Exeter, UK.
  • Flanagan SE; Institute of Biomedical & Clinical Science, University of Exeter, Exeter, UK.
  • Ellard S; Institute of Biomedical & Clinical Science, University of Exeter, Exeter, UK.
Genet Med ; 21(4): 982-986, 2019 04.
Article in En | MEDLINE | ID: mdl-30279471
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosome Mapping / High-Throughput Nucleotide Sequencing / Genetic Diseases, Inborn Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosome Mapping / High-Throughput Nucleotide Sequencing / Genetic Diseases, Inborn Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Country of publication: