Cargando…

Correction: A novel mutation in C5L2 gene was associated with hyperlipidemia and retinitis pigmentosa in a Chinese family

Detalles Bibliográficos
Autores principales:	Qu, Ling-hui, Jin, Xin, Li, Liang-mao, Li, Shi-ying, Yin, Zheng-qin, Xie, Han-ping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Correction
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4109775/ http://dx.doi.org/10.1186/1476-511X-13-110

Ejemplares similares

A novel mutation in C5L2 gene was associated with hyperlipidemia and retinitis pigmentosa in a Chinese family
por: Qu, Ling-hui, et al.
Publicado: (2014)

Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families
por: Huang, Lulin, et al.
Publicado: (2017)

Correction: Retinitis pigmentosa-linked mutation in DHX38 modulates its splicing activity
Publicado: (2023)

Gene Correction Reverses Ciliopathy and Photoreceptor Loss in iPSC-Derived Retinal Organoids from Retinitis Pigmentosa Patients
por: Deng, Wen-Li, et al.
Publicado: (2018)

Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa
por: Zhang, Zhimeng, et al.
Publicado: (2019)

Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family
por: Jin, Xin, et al.
Publicado: (2016)

A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family
por: Sheng, Xunlun, et al.
Publicado: (2010)

Spectrum of rhodopsin gene mutations in Chinese patients with retinitis pigmentosa
por: Yang, Guoxing, et al.
Publicado: (2014)

Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa
por: Jiang, Jingjing, et al.
Publicado: (2017)

Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa
por: Pan, Xinyuan, et al.
Publicado: (2014)

Novel Mutations of RPGR in Chinese Retinitis Pigmentosa Patients and the Genotype-Phenotype Correlation
por: Yang, Liping, et al.
Publicado: (2014)

Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations
por: Sun, Yan, et al.
Publicado: (2020)

Targeted exome capture and sequencing identifies novel PRPF31 mutations in autosomal dominant retinitis pigmentosa in Chinese families
por: Yang, Liping, et al.
Publicado: (2013)

Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa
por: Ullah, Inayat, et al.
Publicado: (2016)

A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family
por: Xu, Wei, et al.
Publicado: (2023)

Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing
por: Qu, Ling-hui, et al.
Publicado: (2020)

Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa
por: Gao, Meng, et al.
Publicado: (2016)

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families
por: Nadeem, Raheela, et al.
Publicado: (2020)

Targeted Next-generation Sequencing Reveals Novel EYS Mutations in Chinese Families with Autosomal Recessive Retinitis Pigmentosa
por: Chen, Xue, et al.
Publicado: (2015)

Identification of two novel PRPF31 mutations in Chinese families with non‐syndromic autosomal dominant retinitis pigmentosa
por: Cao, Li, et al.
Publicado: (2020)

Identification of two mutations of the RHO gene in two Chinese families with retinitis pigmentosa: Correlation between genotype and phenotype
por: Pan, Zhe, et al.
Publicado: (2012)

Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa
por: Huang, Yukan, et al.
Publicado: (2010)

Novel splice receptor-site mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa
por: Wang, Jing, et al.
Publicado: (2018)

Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa
por: Xiao, Ting, et al.
Publicado: (2021)

Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population
por: Huang, Lulin, et al.
Publicado: (2018)

Correction: Comparison of the molecular properties of retinitis pigmentosa P23H and N15S amino acid replacements in rhodopsin
por: Mitchell, James, et al.
Publicado: (2019)

Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing
por: Huang, Xiangjun, et al.
Publicado: (2018)

Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa
por: Dan, Handong, et al.
Publicado: (2020)

Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients
por: Xu, Fei, et al.
Publicado: (2012)

A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family
por: Liu, Tiecheng, et al.
Publicado: (2012)

Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa
por: Liu, Wei, et al.
Publicado: (2021)

Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa
por: Yu, Xinping, et al.
Publicado: (2016)

Long-term safety of human retinal progenitor cell transplantation in retinitis pigmentosa patients
por: Liu, Yong, et al.
Publicado: (2017)

Correction: fasting remnant lipoproteins can predict postprandial hyperlipidemia
por: Nagata, Tomoki, et al.
Publicado: (2014)

Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families
por: Shen, Chang, et al.
Publicado: (2022)

Genotyping microarray: Mutation screening in Spanish families with autosomal dominant retinitis pigmentosa
por: Blanco-Kelly, Fiona, et al.
Publicado: (2012)

Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations
por: Bocquet, Béatrice, et al.
Publicado: (2013)

A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation
por: Xiao, Changrui, et al.
Publicado: (2019)

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing
por: Neidhardt, John, et al.
Publicado: (2008)

A Novel PRPF31 Mutation in a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa and Macular Degeneration
por: Lu, Fang, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_8gnitjb4qogdjraahta9laoog9