Home LiteratureArticle Details
PMID: 12374585 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society ·Vol. 6 ·No. 4 ·2002-00-00 ·Pages 193-8

Bertini E, Pepe G

Abstract

暂无摘要

MeSH Terms
Alternative Splicing/genetics Collagen Type VI/biosynthesis,genetics DNA Mutational Analysis Diagnosis, Differential Gene Expression/genetics Gene Expression Regulation/genetics Humans Muscle Tonus/physiology Muscle, Skeletal/pathology,physiopathology Muscular Dystrophies/genetics,pathology,physiopathology Phenotype Point Mutation/genetics Sclerosis/genetics,pathology
Chemicals
Collagen Type VI
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Bertini Enrico
Department of Neurosciences, Unit of Molecular Medicine, "Bambino Gesù Hospital, IRCCS" Rome, Italy. [email protected]
Pepe Guglielmina
Article Info
Journal
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Abbr.
Eur J Paediatr Neurol
ISSN
1090-3798
DOI
10.1053/ejpn.2002.0593
Email
[email protected]
Published
2002-00-00
Pages
193-8
Language
English
Region
England
NLM ID
9715169
Subset
IM
External Links
PubMed source DOI: 10.1053/ejpn.2002.0593 View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: [email protected]

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2