Novel homozygous protein‐truncating mutation of BBS9 identified in a Chinese consanguineous family with Bardet–Biedl syndrome-Reference-Cited by-同舟云学术

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Novel homozygous protein‐truncating mutation of BBS9 identified in a Chinese consanguineous family with Bardet–Biedl syndrome

Published:2021-07-02 Issue:8 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Tang Hai‐Yan¹^ORCID,Xie Fen²,Dai Ru‐Chun³,Shi Xiao‐Liu⁴

Affiliation:

1. Center for Medical Genetics School of Life Sciences Central South University Changsha Hunan China

2. Department of Endocrinology and Metabolism Xiangtan Central Hospital Xiangtan Hunan China

3. Department of Metabolism & Endocrinology The Second Xiangya HospitalCentral South University Changsha Hunan China

4. Department of Medical Genetics The Second Xiangya HospitalCentral South University Changsha Hunan China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1731

Reference15 articles.

1. In search of triallelism in Bardet–Biedl syndrome

2. High incidence of Bardet Biedl syndrome among the Bedouin

3. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

4. The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland

Cited by 4 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. A Novel Detection Method for High-Order SNP Epistatic Interactions Based on Explicit-Encoding-Based Multitasking Harmony Search;Interdisciplinary Sciences: Computational Life Sciences;2024-07-02

2. Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients;Orphanet Journal of Rare Diseases;2024-04-08

3. Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China;Frontiers in Genetics;2023-11-15

4. Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes;Eye;2023-04-08

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