Natural history and biomarkers of retinal dystrophy caused by the biallelic <i>TULP1</i> variant c.148delG-Reference-Cited by-同舟云学术

Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG

Published:2022-09-21 Issue:2 Volume:101 Page:215-221
ISSN:1755-375X
Container-title:Acta Ophthalmologica
language:en
Short-container-title:Acta Ophthalmologica

Author:

Majander Anna¹^ORCID,Sankila Eeva‐Marja¹,Falck Aura²,Vasara Laura Kristiina¹,Seitsonen Sanna¹,Kulmala Maarit¹,Haavisto Anna‐Kaisa¹^ORCID,Avela Kristiina³^ORCID,Turunen Joni A.¹⁴^ORCID

Affiliation:

1. Department of Ophthalmology University of Helsinki and Helsinki University Hospital Helsinki Finland

2. Department of Ophthalmology PEDEGO Research Unit and Medical Research Center, University of Oulu and Oulu University Hospital Oulu Finland

3. Department of Clinical Genetics University of Helsinki and Helsinki University Hospital Helsinki Finland

4. Eye Genetics Group Folkhälsan Research Center Helsinki Finland

Publisher

Wiley

Subject

Ophthalmology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/aos.15252

Reference30 articles.

1. The genetic aetiology of retinal degeneration in children in Finland – new founder mutations identified

2. TULP1 mutation in two extended Dominican kindreds with autosomal recessive Retinitis pigmentosa

3. Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

4. GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies

5. Structural evaluation in inherited retinal diseases

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy;Diagnostics;2023-02-23

2. Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy;International Journal of Molecular Sciences;2023-01-31