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Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.
Hussain, Sadam; Nawaz, Amjad; Hamid, Malaika; Ullah, Waseem; Khan, Iqbal Nawaz; Afshan, Mehak; Rehman, Adil; Nawaz, Hamid; Halswick, Julia; Rehman, Shoaib-Ur; Ahmad, Sohail; Muzammal, Muhammad; Muhammad, Noor; Jan, Abid; Khan, Saadullah; Windpassinger, Christian; Khan, Muzammil Ahmad.
Afiliación
  • Hussain S; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Nawaz A; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Hamid M; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Ullah W; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Khan IN; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Afshan M; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Rehman A; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Nawaz H; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Halswick J; Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz, Austria.
  • Rehman SU; Department of Biotechnology, University of Science and Technology Bannu, Bannu, Khyber Pakhtunkhwa, Pakistan.
  • Ahmad S; Gomal Centre of Biochemistry and Biotechnology, Gomal University, D. I. Khan, Khyber Pakhtunkhwa, Pakistan.
  • Muzammal M; Gomal Centre of Biochemistry and Biotechnology, Gomal University, D. I. Khan, Khyber Pakhtunkhwa, Pakistan.
  • Muhammad N; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Jan A; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Khan S; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Windpassinger C; Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz, Austria.
  • Khan MA; Gomal Centre of Biochemistry and Biotechnology, Gomal University, D. I. Khan, Khyber Pakhtunkhwa, Pakistan.
Biotechnol Appl Biochem ; 69(6): 2296-2303, 2022 Dec.
Article en En | MEDLINE | ID: mdl-34826358
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Microcefalia Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Biotechnol Appl Biochem Asunto de la revista: BIOQUIMICA / BIOTECNOLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Microcefalia Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Biotechnol Appl Biochem Asunto de la revista: BIOQUIMICA / BIOTECNOLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Estados Unidos