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Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
Vivante, Asaf; Ityel, Hadas; Pode-Shakked, Ben; Chen, Jing; Shril, Shirlee; van der Ven, Amelie T; Mann, Nina; Schmidt, Johanna Magdalena; Segel, Reeval; Aran, Adi; Zeharia, Avraham; Staretz-Chacham, Orna; Bar-Yosef, Omer; Raas-Rothschild, Annick; Landau, Yuval E; Lifton, Richard P; Anikster, Yair; Hildebrandt, Friedhelm.
Afiliación
  • Vivante A; Division of Nephrology, Department of Medicine, Boston Children's Hospital-Harvard Medical School, 300 Longwood Avenue HU319, Boston, MA, 02115, USA.
  • Ityel H; Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel.
  • Pode-Shakked B; Division of Nephrology, Department of Medicine, Boston Children's Hospital-Harvard Medical School, 300 Longwood Avenue HU319, Boston, MA, 02115, USA.
  • Chen J; Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel.
  • Shril S; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • van der Ven AT; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Mann N; Division of Nephrology, Department of Medicine, Boston Children's Hospital-Harvard Medical School, 300 Longwood Avenue HU319, Boston, MA, 02115, USA.
  • Schmidt JM; Division of Nephrology, Department of Medicine, Boston Children's Hospital-Harvard Medical School, 300 Longwood Avenue HU319, Boston, MA, 02115, USA.
  • Segel R; Division of Nephrology, Department of Medicine, Boston Children's Hospital-Harvard Medical School, 300 Longwood Avenue HU319, Boston, MA, 02115, USA.
  • Aran A; Division of Nephrology, Department of Medicine, Boston Children's Hospital-Harvard Medical School, 300 Longwood Avenue HU319, Boston, MA, 02115, USA.
  • Zeharia A; Division of Nephrology, Department of Medicine, Boston Children's Hospital-Harvard Medical School, 300 Longwood Avenue HU319, Boston, MA, 02115, USA.
  • Staretz-Chacham O; Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.
  • Bar-Yosef O; Hadassah Medical School, Hebrew University, Jerusalem, Israel.
  • Raas-Rothschild A; Hadassah Medical School, Hebrew University, Jerusalem, Israel.
  • Landau YE; Pediatric Neurology Unit, Shaare Zedek Medical Center, Jerusalem, Israel.
  • Lifton RP; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Anikster Y; Pediatric Day Hospitalization Department, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
  • Hildebrandt F; Metabolic Clinic, Pediatric Division, Soroka Medical Center, Ben-Gurion University, Beer Sheva, Israel.
Pediatr Nephrol ; 32(12): 2273-2282, 2017 Dec.
Article en En | MEDLINE | ID: mdl-28779239
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Rabdomiólisis / Secuenciación del Exoma Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Pediatr Nephrol Asunto de la revista: NEFROLOGIA / PEDIATRIA Año: 2017 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Rabdomiólisis / Secuenciación del Exoma Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Pediatr Nephrol Asunto de la revista: NEFROLOGIA / PEDIATRIA Año: 2017 Tipo del documento: Article