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Article

Molecular genetic analysis of R124H TGFBIp in one family Avellino corneal dystrophy.

Molecular vision - 1 Jan 2024

Huang Yuluo, Liu Ming, Lu Huayi, Ji Zheng, Jin Tengchuan, Lei Shi

Abstract excerpt

Purpose: The mutation of R124H in TGFBIp causes Avellino corneal dystrophy (ACD, GCD II). However, the molecular mechanisms of ACD caused by the p. R124H mutation are not well understood. In our research, we aimed to explain the molecular mechanisms of ACD caused by the R124H mutation. Methods: The whole blood of a three-generation family having ACD was studied with the whole exome sequencing. Sanger sequencing...

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Share to Corneal Dystrophies, Hereditary
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39959167
PMCID: PMC11829780

Genes

ACD
TGFBI

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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