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Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene.
Yang, Dahae; Cho, Sanghyun; Cho, Sung Im; Kim, Manjin; Seong, Moon-Woo; Park, Sung Sup.
Affiliation
  • Yang D; Department of Laboratory Medicine, Kosin Gospel University Hospital, Busan, Korea.
  • Cho S; Department of Laboratory Medicine, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Korea.
  • Cho SI; Department of Laboratory Medicine, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Korea.
  • Kim M; Department of Laboratory Medicine, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Korea.
  • Seong MW; Department of Laboratory Medicine, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Korea.
  • Park SS; Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea.
Orphanet J Rare Dis ; 17(1): 111, 2022 03 04.
Article in En | MEDLINE | ID: mdl-35246191
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pantothenate Kinase-Associated Neurodegeneration / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2022 Document type: Article Country of publication: Reino Unido
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pantothenate Kinase-Associated Neurodegeneration / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2022 Document type: Article Country of publication: Reino Unido