Unexpected ABCC6 mRNA splicing in a Chinese family with pseudoxanthoma elasticum-Reference-Cited by-同舟云学术

Unexpected ABCC6 mRNA splicing in a Chinese family with pseudoxanthoma elasticum

Published:2018-10-17 Issue:3 Volume:97 Page:e381-e389
ISSN:1755-375X
Container-title:Acta Ophthalmologica
language:en
Short-container-title:Acta Ophthalmol

Author:

Sun Qiao¹²,Wang Weijun¹²,Wu Lifang³,Cheng Lu¹²,Tong Xuemei³,Xu Xun¹²^ORCID

Affiliation:

1. Department of Ophthalmology Shanghai General Hospital Shanghai Jiao Tong University Shanghai China

2. Shanghai Key Laboratory of Fundus Disease Shanghai China

3. Department of Biochemistry and Molecular Cell Biology Shanghai Key Laboratory of Tumor Microenvironment and Inflammation Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education Shanghai Jiao Tong University School of Medicine Shanghai China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Ophthalmology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/aos.13819

Reference46 articles.

1. A method and server for predicting damaging missense mutations

2. Elastic tissue abnormalities resembling pseudoxanthoma elasticum in β thalassemia and the sickling syndromes

3. Identification of a new splice variant of the human ABCC6 transporter;Armentano MF;Biochem Res Int,2008

4. The Spectrum of Ocular Alterations in Patients with β-Thalassemia Syndromes Suggests a Pathology Similar to Pseudoxanthoma Elasticum

5. U12 intron positions are more strongly conserved between animals and plants than U2 intron positions

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