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Once Again High Tech Meets Low Tech on Chromosome 6
Arch Ophthalmol. 2001;119:573-575.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
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DONOSO ET AL 1 are to be congratulated
on their research of the autosomal dominant Stargardt disease gene (STGD3). This study contains some extremely complex issues
that require some clarification, as well as some basic and simple findings
that should be emphasized. The basic issues center on genealogy, phenotype
classification (lumping vs splitting), genotype and haplotype analysis, and
statistics.
Since the submission and acceptance of this article by Donoso et al,
a gene defect responsible for STGD3 was identified.2 This recent finding helps to clarify several issues
relevant to Donoso et al's article and the STGD3
gene locus in general.
Their study used "high tech" as well as "low tech" molecular genetic
methods, but nonetheless labor-intensive genealogical methods. As was the
case with my own studies of North Carolina macular dystrophy, it was the genealogical
work that eventually lead the authors to study in more detail the molecular
genetics . . . [Full Text of this Article]
RELATED ARTICLE
Autosomal Dominant Stargardt-like Macular Dystrophy: Founder Effect and Reassessment of Genetic Heterogeneity
Larry A. Donoso, Arcilee T. Frost, Edwin M. Stone, Richard G. Weleber, Ian M. MacDonald, Gregory S. Hageman, Gerhard W. Cibis, Robert Ritter III, and Albert O. Edwards
Arch Ophthalmol. 2001;119(4):564-570.
ABSTRACT
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THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
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Diverse Macular Dystrophy Phenotype Caused by a Novel Complex Mutation in the ELOVL4 Gene
Bernstein et al.
IOVS 2001;42:3331-3336.
ABSTRACT
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