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

Jenne, Dieter E.; Kley, R. A.; Vorgerd, M.; Schroder, J. M.; Weis, J.; Reimann, Heike; Albrecht, B.; Nurnberg, P.; Thiele, H.; Muller, C. R.; Meng, G.; Witt, C. C.; Labeit, S.

doi:10.1515/BC.2005.008

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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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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0012-2280-C Version Permalink: http://hdl.handle.net/21.11116/0000-000A-0390-F

Genre: Journal Article

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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

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Language(s): eng - English

Dates: Published in Print: 2005-01

Publication Status: Published in print

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Table of Contents: -

Rev. Type: Peer

Identifiers: eDoc: 228791
ISI: 000227383500008
DOI: 10.1515/BC.2005.008

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Title: Biological Chemistry

Abbreviation : Biol Chem

Source Genre: Journal

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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