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


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

BRITISH JOURNAL OF OPHTHALMOLOGY, cilt.98, ss.832-840, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 98 Konu: 6
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1136/bjophthalmol-2013-304058
  • Dergi Adı: BRITISH JOURNAL OF OPHTHALMOLOGY
  • Sayfa Sayıları: ss.832-840

Özet

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