The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe
- 1 March 2002
- journal article
- research article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 10 (3) , 197-203
- https://doi.org/10.1038/sj.ejhg.5200784
Abstract
No abstract availableKeywords
This publication has 27 references indexed in Scilit:
- A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairmentJournal of Medical Genetics, 2001
- Spectrum ofABCA4(ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophiesHuman Mutation, 2001
- Biochemical defects in ABCR protein variants associated with human retinopathiesNature Genetics, 2000
- Simple and Complex ABCR: Genetic Predisposition to Retinal DiseaseAmerican Journal of Human Genetics, 2000
- High carrier frequency of the 35delG deafness mutation in European populationsEuropean Journal of Human Genetics, 2000
- Isolation and Mapping of Novel Candidate Genes for Retinal Disorders Using Suppression Subtractive HybridizationGenomics, 1999
- Spectrum of ABCR gene mutations in autosomal recessive macular dystrophiesEuropean Journal of Human Genetics, 1998
- ABCR unites what ophthalmologists divide(s)Ophthalmic Genetics, 1998
- Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular DegenerationScience, 1997
- Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysisHuman Molecular Genetics, 1993