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Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.
Pettersson, Maria; Vaz, Raquel; Hammarsjö, Anna; Eisfeldt, Jesper; Carvalho, Claudia M B; Hofmeister, Wolfgang; Tham, Emma; Horemuzova, Eva; Voss, Ulrika; Nishimura, Gen; Klintberg, Bo; Nordgren, Ann; Nilsson, Daniel; Grigelioniene, Giedre; Lindstrand, Anna.
Affiliation
  • Pettersson M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
  • Vaz R; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Hammarsjö A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
  • Eisfeldt J; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Carvalho CMB; Science for Life Laboratory, Karolinska Institutet Science Park, Solna, Sweden.
  • Hofmeister W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Tham E; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Horemuzova E; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
  • Voss U; Department of Women's and Children's Health, Karolinska Institutet and Paediatric Endocrinology Unit, Karolinska University Hospital, Stockholm, Sweden.
  • Nishimura G; Department of Pediatric Radiology, Karolinska University Hospital, Stockholm, Sweden.
  • Klintberg B; Intractable Disease Center, Saitama University Hospital, Saitama, Japan.
  • Nordgren A; Department of Pediatrics, Visby Hospital, Visby, Sweden.
  • Nilsson D; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
  • Grigelioniene G; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
  • Lindstrand A; Science for Life Laboratory, Karolinska Institutet Science Park, Solna, Sweden.
Hum Mutat ; 39(10): 1456-1467, 2018 10.
Article in En | MEDLINE | ID: mdl-30080953
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Gene Duplication / Alu Elements / Genetic Association Studies / Muscle Proteins Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Animals / Child / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Sweden Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Gene Duplication / Alu Elements / Genetic Association Studies / Muscle Proteins Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Animals / Child / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Sweden Country of publication: United States