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Article

CSNB1 in Chinese families associated with novel mutations in NYX.

Journal of human genetics - 1 Jan 2006

Xiao Xueshan, Jia Xiaoyun, Guo Xiangming, Li Shiqiang, Yang Zhikuan, Zhang Qingjiong

Abstract excerpt

X-linked congenital stationary night blindness (CSNB) and NYX mutation have not been reported in Chinese. Here, two Chinese families with the complete form of CSNB (CSNB1) are presented. Linkage analysis of one family mapped the disease to Xp11-Xq13 where NYX is located. Sequence analysis of NYX...

Read the complete abstract on PubMed

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Share to Myopia
Share to Chromosomes, Human, X
Share to Electroretinography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Genetic Diseases, X-Linked

Share to Night Blindness

Share to Physical Chromosome Mapping

Share to Proteoglycans

Source

Identifiers

PMID: 16670814
DOI: 10.1007/s10038-006-0406-5

Genes

NYX

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16670814-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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