Related Experiment Video
Updated: Aug 19, 2026
10:17
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Different expressions of one gene for congenital achromatopsia with amblyopia in Northern Sweden
Human Heredity
|January 1, 1980
Abstract:
Congenital achromatopsia with amblyopia is a recessive disorder. The authors report the origin of 9 cases in 4 sibships from one small parish in northern Sweden suggesting a gene source for achromatopsia in this population. The study confirms that complete and incomplete achromatopsia might be different expressions of the same gene. A tendency towards a heterozygotic manifestation of the gene was found.
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