Your browser doesn't support javascript.
loading
Biallelic variants in PSMB1 encoding the proteasome subunit ß6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.
Ansar, Muhammad; Ebstein, Frédéric; Özkoç, Hayriye; Paracha, Sohail A; Iwaszkiewicz, Justyna; Gesemann, Matthias; Zoete, Vincent; Ranza, Emmanuelle; Santoni, Federico A; Sarwar, Muhammad T; Ahmed, Jawad; Krüger, Elke; Bachmann-Gagescu, Ruxandra; Antonarakis, Stylianos E.
Affiliation
  • Ansar M; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland.
  • Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald 17475, Germany.
  • Özkoç H; Institute of Medical Genetics, University of Zurich, Schlieren 8952, Switzerland.
  • Paracha SA; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan.
  • Iwaszkiewicz J; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland.
  • Gesemann M; Department of Molecular Life Sciences, University of Zurich, Zurich 8057, Switzerland.
  • Zoete V; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland.
  • Ranza E; Department of Fundamental Oncology, Ludwig Institute for Cancer Research, Lausanne University, Epalinges 1066, Switzerland.
  • Santoni FA; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland.
  • Sarwar MT; Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland.
  • Ahmed J; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland.
  • Krüger E; Department of Endocrinology Diabetes and Metabolism, Lausanne University Hospital, Lausanne 1011, Switzerland.
  • Bachmann-Gagescu R; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan.
  • Antonarakis SE; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan.
Hum Mol Genet ; 29(7): 1132-1143, 2020 05 08.
Article in En | MEDLINE | ID: mdl-32129449
Subject(s)
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proteasome Endopeptidase Complex / Dwarfism / Microcephaly Limits: Animals / Child / Female / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proteasome Endopeptidase Complex / Dwarfism / Microcephaly Limits: Animals / Child / Female / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Country of publication: