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Article

Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Oct 2009

Paliwal Preeti, Gupta Jaya, Tandon Radhika, Sharma Arundhati, Vajpayee Rasik B

Abstract excerpt

OBJECTIVE: To report Avellino corneal dystrophy and underlying R124H mutation in 2 families of Indian origin. METHODS: Peripheral blood was collected in EDTA for genomic DNA isolation from leukocytes of all affected and unaffected individuals. Amplification of transforming growth factor beta-induced gene (TGFBI) using polymerase chain reaction followed by direct sequencing was carried out to determine the...

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Corneal Dystrophies, Hereditary
Extracellular Matrix Proteins
Genetic Markers
Genetic Testing
India

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Microscopy, Confocal

Mutation, Missense

Transforming Growth Factor beta

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Identifiers

PMID: 19822856
DOI: 10.1001/archophthalmol.2009.262

Genes

TGFBI

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