A Compound Heterozygous One Amino-Acid Insertion/Nonsense Mutation in the Plectin Gene Causes Epider...
A Compound Heterozygous One Amino-Acid Insertion/Nonsense Mutation in the Plectin Gene Causes Epidermolysis Bullosa Simplex with Plectin Deficiency
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Bethesda, MD: Elsevier Inc
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Language
English
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Publisher
Bethesda, MD: Elsevier Inc
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Contents
Plectin is a cytoskeleton linker protein expressed in a variety of tissues including skin, muscle, and nerves. Mutations in its gene are associated with epidermolysis bullosa simplex with late-onset muscular dystrophy. Whereas in most of these patients the pathogenic events are mediated by nonsense-mediated mRNA decay, the consequences of an in-fra...
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Full title
A Compound Heterozygous One Amino-Acid Insertion/Nonsense Mutation in the Plectin Gene Causes Epidermolysis Bullosa Simplex with Plectin Deficiency
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1850321
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1850321
Other Identifiers
ISSN
0002-9440
E-ISSN
1525-2191
DOI
10.1016/S0002-9440(10)64003-5
