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CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.
Strauss, Kevin A; Jinks, Robert N; Puffenberger, Erik G; Venkatesh, Sundararajan; Singh, Kamalendra; Cheng, Iteen; Mikita, Natalie; Thilagavathi, Jayapalraja; Lee, Jae; Sarafianos, Stefan; Benkert, Abigail; Koehler, Alanna; Zhu, Anni; Trovillion, Victoria; McGlincy, Madeleine; Morlet, Thierry; Deardorff, Matthew; Innes, A Micheil; Prasad, Chitra; Chudley, Albert E; Lee, Irene Nga Wing; Suzuki, Carolyn K.
Afiliación
  • Strauss KA; Clinic for Special Children, Strasburg, PA 17579, USA; Lancaster General Hospital, Lancaster, PA 17602, USA; Department of Biology and Biological Foundations of Behavior Program, Franklin and Marshall College, Lancaster, PA 17603, USA. Electronic address: kstrauss@clinicforspecialchildren.org.
  • Jinks RN; Department of Biology and Biological Foundations of Behavior Program, Franklin and Marshall College, Lancaster, PA 17603, USA.
  • Puffenberger EG; Clinic for Special Children, Strasburg, PA 17579, USA; Department of Biology and Biological Foundations of Behavior Program, Franklin and Marshall College, Lancaster, PA 17603, USA.
  • Venkatesh S; Department of Microbiology, Biochemistry, and Molecular Genetics, New Jersey Medical School, Rutgers, The State University of New Jersey, Newark, NJ 07103, USA.
  • Singh K; Department of Microbiology, Biochemistry, and Molecular Genetics, New Jersey Medical School, Rutgers, The State University of New Jersey, Newark, NJ 07103, USA; Department of Molecular Microbiology and Immunology, Christopher Bond Life Sciences Center, University of Missouri, Columbia, Columbia, MO
  • Cheng I; Department of Chemistry, Case Western Reserve University, Cleveland, OH 44106, USA.
  • Mikita N; Department of Chemistry, Case Western Reserve University, Cleveland, OH 44106, USA.
  • Thilagavathi J; Department of Microbiology, Biochemistry, and Molecular Genetics, New Jersey Medical School, Rutgers, The State University of New Jersey, Newark, NJ 07103, USA.
  • Lee J; Department of Microbiology, Biochemistry, and Molecular Genetics, New Jersey Medical School, Rutgers, The State University of New Jersey, Newark, NJ 07103, USA.
  • Sarafianos S; Department of Molecular Microbiology and Immunology, Christopher Bond Life Sciences Center, University of Missouri, Columbia, Columbia, MO 65201, USA.
  • Benkert A; Clinic for Special Children, Strasburg, PA 17579, USA; Department of Biology and Biological Foundations of Behavior Program, Franklin and Marshall College, Lancaster, PA 17603, USA.
  • Koehler A; Department of Biology and Biological Foundations of Behavior Program, Franklin and Marshall College, Lancaster, PA 17603, USA.
  • Zhu A; Department of Biology and Biological Foundations of Behavior Program, Franklin and Marshall College, Lancaster, PA 17603, USA.
  • Trovillion V; Department of Biology and Biological Foundations of Behavior Program, Franklin and Marshall College, Lancaster, PA 17603, USA.
  • McGlincy M; Department of Biology and Biological Foundations of Behavior Program, Franklin and Marshall College, Lancaster, PA 17603, USA.
  • Morlet T; Auditory Physiology and Psychoacoustics Research Laboratory, duPont Hospital for Children, Wilmington, DE 19803, USA.
  • Deardorff M; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada.
  • Prasad C; Medical Genetics Program, Department of Pediatrics, Children's Health Research Institute and Western University, London, ON N6C 2V5, Canada.
  • Chudley AE; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB R3A 1S1, Canada; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB R3A 1S1, Canada.
  • Lee IN; Department of Chemistry, Case Western Reserve University, Cleveland, OH 44106, USA.
  • Suzuki CK; Department of Microbiology, Biochemistry, and Molecular Genetics, New Jersey Medical School, Rutgers, The State University of New Jersey, Newark, NJ 07103, USA.
Am J Hum Genet ; 96(1): 121-35, 2015 Jan 08.
Article en En | MEDLINE | ID: mdl-25574826
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Texto completo: 1 Colección: 01-internacional Asunto principal: Osteocondrodisplasias / Anomalías Dentarias / Anomalías del Ojo / Anomalías Craneofaciales / Proteínas Mitocondriales / Proteasas ATP-Dependientes / Serina Proteasas / Trastornos del Crecimiento / Luxación Congénita de la Cadera Tipo de estudio: Risk_factors_studies Límite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2015 Tipo del documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Asunto principal: Osteocondrodisplasias / Anomalías Dentarias / Anomalías del Ojo / Anomalías Craneofaciales / Proteínas Mitocondriales / Proteasas ATP-Dependientes / Serina Proteasas / Trastornos del Crecimiento / Luxación Congénita de la Cadera Tipo de estudio: Risk_factors_studies Límite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2015 Tipo del documento: Article