A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta-Reference-Cited by-同舟云学术

A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta

Published:2021-12 Issue: Volume:15 Page:101110
ISSN:2352-1872
Container-title:Bone Reports
language:en
Short-container-title:Bone Reports

Author:

El-Gazzar Ahmed,Mayr Johannes A.,Voraberger Barbara,Brugger Karin,Blouin Stéphane,Tischlinger Katharina,Duba Hans-Christoph,Prokisch Holger,Fratzl-Zelman Nadja,Högler Wolfgang

Publisher

Elsevier BV

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference24 articles.

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2. Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization;Buratti;Nucleic Acids Res.,2007

3. DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites;Buratti;Nucleic Acids Res.,2011

4. Cryptic non-canonical splice site activation is part of the mechanism that abolishes multimer organization in the c.2269_2270del von willebrand factor;Daidone;Haematologica,2020

5. Activation of cryptic splice sites in three patients with chronic granulomatous disease;de Boer;Mol. Genet. Genomic Med.,2019

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1. Bone Material Properties in Bone Diseases Affecting Children;Current Osteoporosis Reports;2023-10-28

2. Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes;Frontiers in Endocrinology;2023-10-20

3. Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress;EMBO Molecular Medicine;2023-03-14