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  Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3

Jenne, D. E., Kley, R. A., Vorgerd, M., Schroder, J. M., Weis, J., Reimann, H., et al. (2005). Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3. Biological Chemistry, 386(1), 61-67. doi:10.1515/BC.2005.008.

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 Creators:
Jenne, Dieter E.1, Author              
Kley, R. A., Author
Vorgerd, M., Author
Schroder, J. M., Author
Weis, J., Author
Reimann, Heike1, Author              
Albrecht, B., Author
Nurnberg, P., Author
Thiele, H., Author
Muller, C. R., Author
Meng, G., Author
Witt, C. C., Author
Labeit, S., Author
Affiliations:
1Department: Neuroimmunology / Wekerle, MPI of Neurobiology, Max Planck Society, ou_1113547              

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Free keywords: linkage; missense mutation; molecular model; mutation analysis; phenotype; structure-activity relationship
 Abstract: -

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Language(s): eng - English
 Dates: 2005-01
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: eDoc: 228791
ISI: 000227383500008
DOI: 10.1515/BC.2005.008
 Degree: -

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Title: Biological Chemistry
  Abbreviation : Biol Chem
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: Berlin : W. de Gruyter
Pages: - Volume / Issue: 386 (1) Sequence Number: - Start / End Page: 61 - 67 Identifier: ISSN: 1437-4315
CoNE: https://pure.mpg.de/cone/journals/resource/954927622123