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Article

Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome

1 Apr 2003

Abstract excerpt

BACKGROUND: Germline missense mutations in the GJB2 gene that encodes connexin-26 (Cx26) have recently been found to be the cause of the keratitis-ichthyosis-deafness (KID) syndrome. OBJECTIVES: To define the GJB2 mutations in three Japanese patients with KID syndrome. METHODS: Genomic DNA was extracted from peripheral blood and used to amplify the GJB2 gene. Direct sequencing and endonuclease digestion were used...

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PMID: 12752120
DOI: 10.1046/j.1365-2133.2003.05245.x

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Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndromePMID 12752120Read ↗

[Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome].Semantic proximity Read ↗

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