A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family
Abstract Background Retinitis pigmentosa (RP) is the most common type of inherited retinopathy. At least 69 genes for RP have been identified. A significant proportion of RP, however, remains genetically unsolved. In this study, the genetic basis of a Chinese consanguineous family with presumed auto...
Saved in:
Main Authors: | Wei Xu (Author), Ming Xu (Author), Qinqin Yin (Author), Chuangyi Liu (Author), Qiuxiang Cao (Author), Yun Deng (Author), Sulai Liu (Author), Guiyun He (Author) |
---|---|
Format: | Book |
Published: |
BMC,
2023-01-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa
by: Huang Yukan, et al.
Published: (2010) -
Compound Homozygous Rare Mutations in PLCE1 and HPS1 Genes Associated with Autosomal Recessive Retinitis Pigmentosa in Pakistani Families
by: Masroor Ellahi Babar, et al.
Published: (2022) -
A homozygous mutation in the insulin gene () causing autosomal recessive neonatal diabetes in Saudi families
by: Adnan Al Shaikh, et al.
Published: (2020) -
An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3
by: Bouhouche Ahmed, et al.
Published: (2012) -
Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
by: Muhammad Ilyas, et al.
Published: (2020)