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Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.
Cassini, Thomas A; Duncan, Laura; Rives, Lynette C; Newman, John H; Phillips, John A; Koziura, Mary E; Brault, Jennifer; Hamid, Rizwan; Cogan, Joy.
Affiliation
  • Cassini TA; Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.
  • Duncan L; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee.
  • Rives LC; Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.
  • Newman JH; Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.
  • Phillips JA; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee.
  • Koziura ME; Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.
  • Brault J; Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.
  • Hamid R; Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.
  • Cogan J; Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.
Mol Genet Genomic Med ; 7(6): e00676, 2019 06.
Article in En | MEDLINE | ID: mdl-31020813
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Transcription Factors / Charcot-Marie-Tooth Disease / DNA-Binding Proteins / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Female / Humans Language: En Journal: Mol Genet Genomic Med Year: 2019 Document type: Article
Fulltext
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XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Transcription Factors / Charcot-Marie-Tooth Disease / DNA-Binding Proteins / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Female / Humans Language: En Journal: Mol Genet Genomic Med Year: 2019 Document type: Article