A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

10.1093/hmg/ddr471

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Bibliographic Details
Main Authors:	Weterman, Marian AJ, Sorrentino, Vincenzo, Kasher, Paul R, Jakobs, Marja E, van Engelen, Baziel GM, Fluiter, Kees, de Wissel, Marit B, Sizarov, Aleksander, Nuernberg, Gudrun, Nuernberg, Peter, Zelcer, Noam, Schelhaas, H Jurgen, Baas, Frank
Other Authors:	BIOCHEMISTRY
Format:	Article
Language:	English
Published:	OXFORD UNIV PRESS 2024
Subjects:	Science & Technology Life Sciences & Biomedicine Biochemistry & Molecular Biology Genetics & Heredity DIFFERENTIATION-ASSOCIATED PROTEIN-1 GENE LIGASE PMP-22 TSG101
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/247846
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Institution:	National University of Singapore
Language:	English

id	sg-nus-scholar.10635-247846
record_format	dspace
spelling	sg-nus-scholar.10635-2478462024-04-11T09:27:16Z A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy Weterman, Marian AJ Sorrentino, Vincenzo Kasher, Paul R Jakobs, Marja E van Engelen, Baziel GM Fluiter, Kees de Wissel, Marit B Sizarov, Aleksander Nuernberg, Gudrun Nuernberg, Peter Zelcer, Noam Schelhaas, H Jurgen Baas, Frank BIOCHEMISTRY Science & Technology Life Sciences & Biomedicine Biochemistry & Molecular Biology Genetics & Heredity DIFFERENTIATION-ASSOCIATED PROTEIN-1 GENE LIGASE PMP-22 TSG101 10.1093/hmg/ddr471 HUMAN MOLECULAR GENETICS 21 2 358-370 2024-04-11T09:21:04Z 2024-04-11T09:21:04Z 2012-01-15 2024-04-08T10:54:43Z Article Weterman, Marian AJ, Sorrentino, Vincenzo, Kasher, Paul R, Jakobs, Marja E, van Engelen, Baziel GM, Fluiter, Kees, de Wissel, Marit B, Sizarov, Aleksander, Nuernberg, Gudrun, Nuernberg, Peter, Zelcer, Noam, Schelhaas, H Jurgen, Baas, Frank (2012-01-15). A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy. HUMAN MOLECULAR GENETICS 21 (2) : 358-370. ScholarBank@NUS Repository. https://doi.org/10.1093/hmg/ddr471 0964-6906 1460-2083 https://scholarbank.nus.edu.sg/handle/10635/247846 en OXFORD UNIV PRESS Elements
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
language	English
topic	Science & Technology Life Sciences & Biomedicine Biochemistry & Molecular Biology Genetics & Heredity DIFFERENTIATION-ASSOCIATED PROTEIN-1 GENE LIGASE PMP-22 TSG101
spellingShingle	Science & Technology Life Sciences & Biomedicine Biochemistry & Molecular Biology Genetics & Heredity DIFFERENTIATION-ASSOCIATED PROTEIN-1 GENE LIGASE PMP-22 TSG101 Weterman, Marian AJ Sorrentino, Vincenzo Kasher, Paul R Jakobs, Marja E van Engelen, Baziel GM Fluiter, Kees de Wissel, Marit B Sizarov, Aleksander Nuernberg, Gudrun Nuernberg, Peter Zelcer, Noam Schelhaas, H Jurgen Baas, Frank A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
description	10.1093/hmg/ddr471
author2	BIOCHEMISTRY
author_facet	BIOCHEMISTRY Weterman, Marian AJ Sorrentino, Vincenzo Kasher, Paul R Jakobs, Marja E van Engelen, Baziel GM Fluiter, Kees de Wissel, Marit B Sizarov, Aleksander Nuernberg, Gudrun Nuernberg, Peter Zelcer, Noam Schelhaas, H Jurgen Baas, Frank
format	Article
author	Weterman, Marian AJ Sorrentino, Vincenzo Kasher, Paul R Jakobs, Marja E van Engelen, Baziel GM Fluiter, Kees de Wissel, Marit B Sizarov, Aleksander Nuernberg, Gudrun Nuernberg, Peter Zelcer, Noam Schelhaas, H Jurgen Baas, Frank
author_sort	Weterman, Marian AJ
title	A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
title_short	A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
title_full	A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
title_fullStr	A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
title_full_unstemmed	A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
title_sort	frameshift mutation in lrsam1 is responsible for a dominant hereditary polyneuropathy
publisher	OXFORD UNIV PRESS
publishDate	2024
url	https://scholarbank.nus.edu.sg/handle/10635/247846
_version_	1800916026884358144

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

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