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Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
Chen, Anlu; Tiosano, Dov; Guran, Tulay; Baris, Hagit N; Bayram, Yavuz; Mory, Adi; Shapiro-Kulnane, Laura; Hodges, Craig A; Akdemir, Zeynep C; Turan, Serap; Jhangiani, Shalini N; van den Akker, Focco; Hoppel, Charles L; Salz, Helen K; Lupski, James R; Buchner, David A.
Afiliación
  • Chen A; Department of Biochemistry, Case Western Reserve University, Cleveland, OH 44106, USA.
  • Tiosano D; Division of Pediatric Endocrinology, Ruth Children's Hospital, Rambam Medical Center, Haifa 30196, Israel.
  • Guran T; Rappaport Family Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 30196, Israel.
  • Baris HN; Department of Pediatric Endocrinology and Diabetes, Marmara University Hospital, Istanbul 34899, Turkey.
  • Bayram Y; Rappaport Family Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 30196, Israel.
  • Mory A; The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel.
  • Shapiro-Kulnane L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Hodges CA; The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel.
  • Akdemir ZC; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA.
  • Turan S; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA.
  • Jhangiani SN; Department of Pediatrics, Case Western Reserve University, Cleveland, OH 44106, USA.
  • van den Akker F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Hoppel CL; Department of Pediatric Endocrinology and Diabetes, Marmara University Hospital, Istanbul 34899, Turkey.
  • Salz HK; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Lupski JR; Department of Biochemistry, Case Western Reserve University, Cleveland, OH 44106, USA.
  • Buchner DA; Department of Pharmacology, Center for Mitochondrial Diseases, Case Western Reserve University, Cleveland, OH 44106, USA.
Hum Mol Genet ; 27(11): 1913-1926, 2018 06 01.
Article en En | MEDLINE | ID: mdl-29566152
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Ribosómicas / Insuficiencia Ovárica Primaria / Proteínas de Drosophila / Proteínas Mitocondriales / Fertilidad Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Animals / Female / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Ribosómicas / Insuficiencia Ovárica Primaria / Proteínas de Drosophila / Proteínas Mitocondriales / Fertilidad Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Animals / Female / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido