Your browser doesn't support javascript.
loading
Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion.
Carroll, Renee; Shaw, Marie; Arvio, Maria; Gardner, Alison; Kumar, Raman; Hodgson, Bree; Heron, Sarah; McKenzie, Fiona; Järvelä, Irma; Gecz, Jozef.
Affiliation
  • Carroll R; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, 5005, Australia.
  • Shaw M; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, 5005, Australia.
  • Arvio M; Department of Medical Genetics, Biomedicum, University of Helsinki, Haartmaninkatu 8, 00251, Helsinki, Finland.
  • Gardner A; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, 5005, Australia.
  • Kumar R; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, 5005, Australia.
  • Hodgson B; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, 5005, Australia.
  • Heron S; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, 5005, Australia.
  • McKenzie F; Genetic Services of Western Australia, Perth, WA, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.
  • Järvelä I; Department of Medical Genetics, Biomedicum, University of Helsinki, Haartmaninkatu 8, 00251, Helsinki, Finland.
  • Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, 5005, Australia; South Australian Health and Medical Research Institute, Adelaide, South Australia, 5000, Australia. Electronic address: jozef.gecz@adelaide.edu.au.
Eur J Med Genet ; 63(10): 104010, 2020 Oct.
Article in En | MEDLINE | ID: mdl-32688058
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Fragile X Mental Retardation Protein / Fragile X Syndrome Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Aged / Humans / Male / Middle aged Country/Region as subject: Europa / Oceania Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Fragile X Mental Retardation Protein / Fragile X Syndrome Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Aged / Humans / Male / Middle aged Country/Region as subject: Europa / Oceania Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Country of publication: