Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa
Joint Authors
Audere, Māreta
Rutka, Katrīna
Šepetiene, Svetlana
Lace, Baiba
Source
Case Reports in Ophthalmological Medicine
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-07-02
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
Retinitis pigmentosa is a degenerative retinal disease characterized by progressive photoreceptor damage, which causes loss of peripheral and night vision and the development of tunnel vision and may result in loss of central vision.
This study describes a patient with retinitis pigmentosa caused by a mutation in the ABCA4 gene with complex allele c.1622T>C, p.L541P; c.3113C>T, p.A1038V in homozygous state.
American Psychological Association (APA)
Audere, Māreta& Rutka, Katrīna& Šepetiene, Svetlana& Lace, Baiba. 2015. Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa. Case Reports in Ophthalmological Medicine،Vol. 2015, no. 2015, pp.1-3.
https://search.emarefa.net/detail/BIM-1059377
Modern Language Association (MLA)
Audere, Māreta…[et al.]. Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa. Case Reports in Ophthalmological Medicine No. 2015 (2015), pp.1-3.
https://search.emarefa.net/detail/BIM-1059377
American Medical Association (AMA)
Audere, Māreta& Rutka, Katrīna& Šepetiene, Svetlana& Lace, Baiba. Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa. Case Reports in Ophthalmological Medicine. 2015. Vol. 2015, no. 2015, pp.1-3.
https://search.emarefa.net/detail/BIM-1059377
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1059377
