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Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis.
Chorin, Odelia; Yachelevich, Naomi; Mohamed, Khaled; Moscatelli, Ilana; Pappas, John; Henriksen, Kim; Evrony, Gilad D.
Affiliation
  • Chorin O; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA.
  • Yachelevich N; Division of Clinical Genetic Services, Department of Pediatrics, New York University Grossman School of Medicine, New York, NY, USA.
  • Mohamed K; Nordic Bioscience Biomarkers and Research, Herlev, Denmark.
  • Moscatelli I; Division of Molecular Medicine and Gene Therapy, Lund University, Lund, Sweden.
  • Pappas J; Division of Clinical Genetic Services, Department of Pediatrics, New York University Grossman School of Medicine, New York, NY, USA.
  • Henriksen K; Nordic Bioscience Biomarkers and Research, Herlev, Denmark.
  • Evrony GD; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA.
Mol Genet Genomic Med ; 8(10): e1405, 2020 10.
Article in En | MEDLINE | ID: mdl-32691986
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteopetrosis / Chloride Channels / RNA-Seq Type of study: Diagnostic_studies / Prognostic_studies Limits: Child, preschool / Female / Humans Language: En Journal: Mol Genet Genomic Med Year: 2020 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteopetrosis / Chloride Channels / RNA-Seq Type of study: Diagnostic_studies / Prognostic_studies Limits: Child, preschool / Female / Humans Language: En Journal: Mol Genet Genomic Med Year: 2020 Document type: Article Affiliation country: Country of publication: