Molecular Scanning of the ABCA4 Gene in Spanish Patients with Retinitis Pigmentosa and Stargardt Disease: Identification of Novel Mutations-Reference-Cited by-同舟云学术

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Molecular Scanning of the ABCA4 Gene in Spanish Patients with Retinitis Pigmentosa and Stargardt Disease: Identification of Novel Mutations

Published:2007-07 Issue:5 Volume:17 Page:749-754
ISSN:1120-6721
Container-title:European Journal of Ophthalmology
language:en
Short-container-title:European Journal of Ophthalmology

Author:

Stenirri S.¹,Battistella S.¹,Soriani N.¹,Bernal S.²,Baiget M.²,Ferrari M.¹³⁴,Cremonesi L.¹

Affiliation:

1. Genomic Unit for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milano - Italy

2. Servei de Genètica, Hospital Sant Pau, Barcelona - Spain

3. Diagnostica e Ricerca San Raffaele SpA, Milano

4. Università Vita-Salute San Raffaele, Milano - Italy

Publisher

SAGE Publications

Subject

Ophthalmology,General Medicine

Link

http://journals.sagepub.com/doi/pdf/10.1177/112067210701700510

Reference20 articles.

1. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy

2. The 2588G→C Mutation in the ABCR Gene Is a Mild Frequent Founder Mutation in the Western European Population and Allows the Classification of ABCR Mutations in Patients with Stargardt Disease

3. The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial

4. Denaturing HPLC Profiling of the ABCA4 Gene for Reliable Detection of Allelic Variations

5. Denaturing HPLC analysis of DNA deletions and insertions

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Autosomal Recessive Retinitis Pigmentosa with Early Macular Affectation Caused by Premature Truncation inPROM1;Investigative Opthalmology & Visual Science;2010-05-01

2. Hereditary retinal disease;Current Opinion in Ophthalmology;2008-05

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