Splicing Defects in the COL3A1 Gene: Marked Preference for 5′ (Donor) Splice-Site Mutations in Patients with Exon-Skipping Mutations and Ehlers-Danlos Syndrome Type IV-Reference-Cited by-同舟云学术

Splicing Defects in the COL3A1 Gene: Marked Preference for 5′ (Donor) Splice-Site Mutations in Patients with Exon-Skipping Mutations and Ehlers-Danlos Syndrome Type IV

Published:1997-12 Issue:6 Volume:61 Page:1276-1286
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Schwarze Ulrike,Goldstein Jayne A.,Byers Peter H.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference54 articles.

1. Structure of cDNA clones coding for the entire preproα1(III) chain of human type III procollagen;Ala-Kokko;Biochem J,1989

2. A G+1→A change in IVS20 of the type III procollagen gene leads to cryptic splicing of the mRNA in an EDS IV patient;Anderson;Matrix,1993

3. Cloning and analysis of the 5′ portion of the human type-III procollagen gene (COL3A1);Benson-Chanda;Gene,1989

4. Exon recognition in vertebrate splicing;Berget;J Biol Chem,1995

5. Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta;Bonadio;J Biol Chem,1985

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