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A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family.
Gauhar, Zeeshan; Tejwani, Leon; Abdullah, Uzma; Saeed, Sadia; Shafique, Shagufta; Badshah, Mazhar; Choi, Jungmin; Dong, Weilai; Nelson-Williams, Carol; Lifton, Richard P; Lim, Janghoo; Raja, Ghazala K.
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  • Gauhar Z; University Institute of Biochemistry and Biotechnology (UIBB), Pir Mehr Ali Shah Arid Agriculture University Rawalpindi (PMAS-AAUR), Rawalpindi 46300, Pakistan.
  • Tejwani L; Interdepartmental Neuroscience Program, Yale School of Medicine, New Haven, CT 06510, USA.
  • Abdullah U; Department of Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA.
  • Saeed S; University Institute of Biochemistry and Biotechnology (UIBB), Pir Mehr Ali Shah Arid Agriculture University Rawalpindi (PMAS-AAUR), Rawalpindi 46300, Pakistan.
  • Shafique S; University Institute of Biochemistry and Biotechnology (UIBB), Pir Mehr Ali Shah Arid Agriculture University Rawalpindi (PMAS-AAUR), Rawalpindi 46300, Pakistan.
  • Badshah M; University Institute of Biochemistry and Biotechnology (UIBB), Pir Mehr Ali Shah Arid Agriculture University Rawalpindi (PMAS-AAUR), Rawalpindi 46300, Pakistan.
  • Choi J; Department of Health Informatics, Women University, Swabi 23430, Pakistan.
  • Dong W; Department of Neurology, Pakistan Institute of Medical Sciences (PIMS), Islamabad 04485, Pakistan.
  • Nelson-Williams C; Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.
  • Lifton RP; Department of Biomedical Sciences, Korea University College of Medicine, Seoul 02841, Korea.
  • Lim J; Laboratory of Human Genetics and Genomics, Rockefeller University, New York, NY 10065, USA.
  • Raja GK; Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.
Cells ; 11(19)2022 09 30.
Article en En | MEDLINE | ID: mdl-36231052
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxia Cerebelosa Tipo de estudio: Prognostic_studies Límite: Adult / Child / Humans País/Región como asunto: Asia Idioma: En Revista: Cells Año: 2022 Tipo del documento: Article País de afiliación: Pakistán
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxia Cerebelosa Tipo de estudio: Prognostic_studies Límite: Adult / Child / Humans País/Región como asunto: Asia Idioma: En Revista: Cells Año: 2022 Tipo del documento: Article País de afiliación: Pakistán