A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end‑stage kidney disease
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DOI[10.1007/s13730-019-00419-y]to the data of the same series
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- Material Type
- 記事
- Author/Editor
- Ken SaidaKoichi KameiNaoya Morisada
- Publication, Distribution, etc.
- Publication Date
- 2019-09-19
- Publication Date (W3CDTF)
- 2019-09-19
- Periodical title
- CEN case reports
- No. or year of volume/issue
- 9(1)
- Volume
- 9(1)
- ISSN (Periodical Title)
- 2192-4449
- Text Language Code
- eng
- DOI
- 10.1007/s13730-019-00419-y
- Persistent ID (NDL)
- info:ndljp/pid/11491790
- Collection
- Collection (Materials For Handicapped People:1)
- Collection (particular)
- 国立国会図書館デジタルコレクション > 電子書籍・電子雑誌 > その他
- Acquisition Basis
- オンライン資料収集制度
- Date Accepted (W3CDTF)
- 2020-05-25T21:22:51+09:00
- Date Captured (W3CDTF)
- 2020-05-01
- Format (IMT)
- application/pdf
- Access Restrictions
- 国立国会図書館内限定公開
- Service for the Digitized Contents Transmission Service
- 図書館・個人送信対象外
- Availability of remote photoduplication service
- 可
- Periodical Title (URI)
- Periodical Title (Persistent ID (NDL))
- info:ndljp/pid/11491785
- Data Provider (Database)
- 国立国会図書館 : 国立国会図書館デジタルコレクション
- Summary, etc.
- コレクション : 国立国会図書館デジタルコレクション > 電子書籍・電子雑誌 > その他
- DOI
- 10.1007/s13730-019-00419-y
- Related Material (URI)
- Is Referenced By
- Clinical and genetic variability of PAX2-related disorder in the Japanese population
- References
- Mutations in PAX2 Associate with Adult-Onset FSGSOptic nerve coloboma associated with renal diseaseAssociation of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma SyndromeRenal coloboma syndromeUpdate of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific databaseTypical renal‐coloboma syndrome phenotype in a patient with a submicroscopic deletion of the <i>PAX2</i> geneDominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children
- Data Provider (Database)
- 国立情報学研究所 : CiNii Research
- Original Data Provider (Database)
- 雑誌記事索引データベースCrossref科学研究費助成事業データベース科学研究費助成事業データベースCrossref
- Bibliographic ID (NDL)
- 11491790