Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with ehlers-danlos type IV-Reference-Cited by-同舟云学术

Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with ehlers-danlos type IV

Published:1995 Issue:2 Volume:6 Page:116-125
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Thakker-Varia Smita,Anderson David W.,Kuivaniemi Helena,Tromp Gerard,Shin Hyeon-Gyu,van der Rest Michel,Glorieux Francis H.,Ala-kokko Leena,Stolle Catherine A.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference40 articles.

1. Structure of cDNA clones coding for the entire preproα1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences

2. Low production of procollagen III by skin fibroblasts from patients with Ehlers-Danlos syndrome type IV is not caused by decreased levels of procollagen III mRNA

3. Regulation of the production of secretory proteins: Intracellular degradation of newly synthesized "defective" collagen

4. Nucleotide sequences of complementary deoxyribonucleic acids for the pro.alpha.1 chain of human type I procollagen. Statistical evaluation of structures that are conserved during evolution

5. An intron mutation in the human alpha 1(I) collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II.

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