• English
    • Deutsch
View Item 
  •   OPARU Home
  • Universitätsklinikum Ulm
  • Publikationsnachweise
  • View Item
  •   OPARU Home
  • Universitätsklinikum Ulm
  • Publikationsnachweise
  • View Item
  • English 
    • English
    • Deutsch
  • Login
JavaScript is disabled for your browser. Some features of this site may not work without it.

Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum

Erstveröffentlichung
2016
Metadata only
Search for full text
Wissenschaftlicher Artikel


Authors
Luehl, Simon
Bode, Harald
Schloetzer, Wiebke
Bartsakoulia, Marina
Horvath, Rita
et al.
Institutions
UKU. Klinik für Kinder- und Jugendmedizin
UKU. Klinik für diagnostische und interventionelle Radiologie
Published in
Orphanet Journal of Rare Diseases ; 11 (2016). - Art.-Nr. 140. - ISSN 1750-1172
Link to publication
https://dx.doi.org/10.1186/s13023-016-0525-9
Funding information
Medical Research Council [G1000848]
Keywords
Mitochondrial disease; RARS2; Pontocerebellar hypoplasia; OXPHOS; Mitochondrial arginyl transfer RNA synthetase; features
Dewey Decimal Group
DDC 610 / Medicine & health

Metadata
Show full item record

About OPARU | Contact Us
Impressum | Privacy statement
 

 

Advanced Search

Browse

All of OPARUCommunities & CollectionsFacultiesInstitutionsPersonsResource typesUlm SerialsDewey Decimal ClassesFundingThis CollectionFacultiesInstitutionsPersonsResource typesUlm SerialsDewey Decimal ClassesFunding

My Account

LoginRegister

Statistics

View Usage Statistics

About OPARU | Contact Us
Impressum | Privacy statement