Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia

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Semerci C. N., KALAY E., Yildirim C., DİNÇER T., Olmez A., TORAMAN B., ...More

BRITISH JOURNAL OF OPHTHALMOLOGY, vol.98, no.6, pp.832-840, 2014 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: 98 Issue: 6
• Publication Date: 2014
• Doi Number: 10.1136/bjophthalmol-2013-304058
• Journal Name: BRITISH JOURNAL OF OPHTHALMOLOGY
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.832-840
• Hacettepe University Affiliated: Yes

Abstract

Aim This study aimed to identify the underlying genetic defect responsible for anophthalmia/microphthalmia.