Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Gerald Hartl"'
Autor:
Hans Offenbacher, Hans-Peter Hartung, Piet Auer-Grumbach, T. Robl, Renate Fischer, Ernst B. Zwick, Michaela Auer-Grumbach, Christian Windpassinger, Hanns Lochmüller, Gerald Hartl, Beate Schlotter-Weigel, Klaus Wagner, Gertrud Strobl‐Wildemann
Publikováno v:
Annals of Neurology. 57:415-424
Recently, two missense mutations (N88S, S90L) in the Berardinelli-Seip congenital lipodystrophy gene have been identified in autosomal dominant distal hereditary motor neuropathy and Silver syndrome. We report the phenotypic consequences of the N88S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ab87deceebe2a91df27488233740d26
https://doi.org/10.1002/ana.20410
https://doi.org/10.1002/ana.20410
Autor:
Michaela, Auer-Grumbach, Beate, Schlotter-Weigel, Hanns, Lochmüller, Gertrud, Strobl-Wildemann, Piet, Auer-Grumbach, Renate, Fischer, Hans, Offenbacher, Ernst Bernhard, Zwick, Tanja, Robl, Gerald, Hartl, Hans-Peter, Hartung, Klaus, Wagner, Christian, Windpassinger
Publikováno v:
Annals of neurology. 57(3)
Recently, two missense mutations (N88S, S90L) in the Berardinelli-Seip congenital lipodystrophy gene have been identified in autosomal dominant distal hereditary motor neuropathy and Silver syndrome. We report the phenotypic consequences of the N88S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::79b7ed678182c0e1bf393e2580d42812
https://pubmed.ncbi.nlm.nih.gov/15732094
https://pubmed.ncbi.nlm.nih.gov/15732094