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Functional analysis of amino acid substitution variations in the Ficolin-3 gene (FCN3)

✍ Scribed by Tina Hummelshøj; Janna Nissen; Lea Munthe-Fog; Ying Jie Ma; Hans O. Madsen; Peter Garred

Book ID
113805079
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
73 KB
Volume
47
Category
Article
ISSN
0161-5890

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Connexin31 (GJB3) has been associated with hearing impairment and erythrokeratodermia variabilis. We have analyzed this gene in samples from patients with peripheral neuropathies, deafness and controls and have found several single nucleotide polymorphisms (SNPs). In the noncoding exon 1 of GJB3 two