Article
Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.
The British journal of ophthalmology - 1 Jun 2014
Semerci C Nur, Kalay Ersan, Yıldırım Cem, Dinçer Tuba, Olmez Akgün, Toraman Bayram, Koçyiğit Ali, Bulgu Yunus, Okur Volkan, Satıroğlu-Tufan Lale, Akarsu Nurten A
Abstract excerpt
AIM: This study aimed to identify the underlying genetic defect responsible for anophthalmia/microphthalmia. METHODS: In total, two Turkish families with a total of nine affected individuals were included in the study. Affymetrix 250 K single nucleotide polymorphism genotyping and homozygosity mapping were used to identify the localisation of the genetic defect in question. Coding region of the ALDH1A3 gene was...
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