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Your search keyword '"Wei-Ting Tu"' showing total 2 results
Start Over Author "Wei-Ting Tu" Publisher medical journals sweden ab
2 results on '"Wei-Ting Tu"'

1. Complexity of Transcriptional and Translational Interference of Laminin-332 Subunits in Junctional Epidermolysis Bullosa with LAMB3 Mutations.

Author

Ping-Chen HOU, Ken NATSUGA, Wei-Ting TU, Hsin-Yu HUANG, CHEN, Brandon, Liang-Yu CHEN, Wan-Rung CHEN, Yi-Kai HONG, Yen-An TANG, Julia Yu-Yun LEE, Peng-Chieh CHEN, SUN, H. Sunny, MCGRATH, John A., and Chao-Kai HSU

Subjects
EPIDERMOLYSIS bullosa, STOP codons, IMMUNOHISTOCHEMISTRY, SYMPTOMS, CYTOSKELETAL proteins, DENTAL enamel
Published
2021
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2. Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex.

Author

Wei-Ting TU, Peng-Chieh CHEN, Ping-Chen HOU, Hsin-Yu HUANG, Jing-Yu WANG, Sheau-Chiou CHAO, Julia Yu-Yun LEE, John A. MCGRATH, Ken NATSUGA, and Chao-Kai HSU

Subjects
*PATHOLOGY, *MISSENSE mutation, *INTERMEDIATE filament proteins, *HEALTH services administration, *EPIDERMOLYSIS bullosa, *PALMOPLANTAR keratoderma
Abstract

The article presents a case study of a 31-year-old woman presented with painful generalized blistering and erosions since birth. Topics include plectin has a linker-protein that has expressed ubiquitously in tissues, including skin, muscle and nervous system; and mutations in the plectin gene has underlie both autosomal dominant and autosomal recessive subtypes of the inherited blistering disease.

Published
2020
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