Art

J-GLOBAL ID：201302282401963642   Reference number：13A0619363

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

髄質嚢胞腎:髄質嚢胞腎I型を発症させる変異は,大量並行塩基配列決定では見逃されたMUC1の長鎖VNTRに存在する

Author (40)： KIRBY Andrew (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  GNIRKE Andreas (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  JAFFE David B (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  POCHET Nathalie (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  BLUMENSTIEL Brendan (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  YE Chun (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  AIRD Daniel (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  STEVENS Christine (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  ROBINSON James T (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  CABILI Moran N (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  GAT-VIKS Irit (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  KELLIHER Edward (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  DAZA Riza (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  DEFELICE Matthew (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  GUTTMAN Mitchell (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  HANDSAKER Robert E (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  PERRIN Danielle (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  STEELMAN Scott (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  SIGURDSSON Snaevar (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  SOUGNEZ Carrie (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  CIBULSKIS Kristian (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  PARKIN Melissa (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  GREEN Todd (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  ROSSIN Elizabeth (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  ZODY Michael C (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  XAVIER Ramnik J (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  LINDBLAD-TOH Kerstin (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  GABRIEL Stacey (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  REGEV Aviv (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  NUSBAUM Chad (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  LANDER Eric S (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  DALY Mark J (Broad Inst. of Harvard and MIT, Massachusetts, USA) ,  KIRBY Andrew (Massachusetts General Hospital, Massachusetts, USA) ,  DALY Mark J (Massachusetts General Hospital, Massachusetts, USA) ,  BARESOVA Veronika (Charles Univ. in Prague, Prague, CZE) ,  HULKOVA Helena (Charles Univ. in Prague, Prague, CZE) ,  SOVOVA Jana (Charles Univ. in Prague, Prague, CZE) ,  VYLET'AL Petr (Charles Univ. in Prague, Prague, CZE) ,  KMOCH Stanislav (Charles Univ. in Prague, Prague, CZE) ,  POCHET Nathalie (Ghent Univ., Ghent, BEL)
Material： Nature Genetics  (Nat Genet)
Volume： 45  Issue： 3  Page： 299-303  Publication year： Mar. 2013 
JST Material Number： W0430A  ISSN： 1061-4036  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： *gene ,  congenital disease ,  *cystic kidney ,  human ,  pedigree ,  mucin ,  nucleotide sequence ,  repetitive sequence ,  *VNTR
Semi thesaurus term： *MUC1遺伝子 ,  ムチン1 ,  *Medullary cystic kidney disease

JST classification (1)： Genetic variation  (EC01030Y)

Terms in the title (9)： 髄質 ,  嚢胞腎 ,  発症 ,  変異 ,  並行 ,  塩基配列 ,  MUC1 ,  長鎖 ,  VNTR