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An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.
Schaflinger, Erich; Blatterer, Jasmin; Khan, Aiman Saeed; Kaufmann, Lukas; Auinger, Lisa; Tatrai, Benjamin; Abbasi, Sumra Wajid; Zeeshan Ali, Muhammad; Abbasi, Ansar Ahmad; Al Kaissi, Ali; Petek, Erwin; Wagner, Klaus; Ahmad Khan, Muzammil; Windpassinger, Christian.
Affiliation
  • Schaflinger E; Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz 8010, Austria.
  • Blatterer J; Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz 8010, Austria.
  • Khan AS; Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I.Khan, Khyber Pakhtunkhwa, Pakistan.
  • Kaufmann L; Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz 8010, Austria.
  • Auinger L; Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz 8010, Austria.
  • Tatrai B; Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz 8010, Austria.
  • Abbasi SW; NUMS Department of Biological Sciences, National University of Medical Sciences, The Mall, Abid Majeed Road, Rawalpindi, Punjab, Pakistan.
  • Zeeshan Ali M; Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I.Khan, Khyber Pakhtunkhwa, Pakistan.
  • Abbasi AA; Department of Zoology, Mirpur University of Science and Technology, Mirpur, AJK 10250, Pakistan.
  • Al Kaissi A; Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling, 1st Med. Dept. Hanusch Hospital, Vienna, Austria.
  • Petek E; Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz 8010, Austria.
  • Wagner K; Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz 8010, Austria.
  • Ahmad Khan M; Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I.Khan, Khyber Pakhtunkhwa, Pakistan. Electronic address: muzammilgandapur1983@gmail.com.
  • Windpassinger C; Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz 8010, Austria. Electronic address: christian.windpassinger@medunigraz.at.
Gene ; 833: 146582, 2022 Jul 30.
Article in En | MEDLINE | ID: mdl-35597529
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Progeria / Metalloendopeptidases / Lipodystrophy / Membrane Proteins Type of study: Prognostic_studies Limits: Humans Language: En Journal: Gene Year: 2022 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Progeria / Metalloendopeptidases / Lipodystrophy / Membrane Proteins Type of study: Prognostic_studies Limits: Humans Language: En Journal: Gene Year: 2022 Document type: Article Affiliation country: Country of publication: