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| TITLE: |
Homozygosity mapping of the achromatopsia locus in the Pingelapese / Jeffrey D. Winick [et al.] |
| AUTHOR: |
Winick, Jeffrey D. |
| PUBLISHED: |
New York, New York : The Rockefeller University, 1999 |
| DESCRIPTION: |
1679-1685 p. : 28 cm. |
| NOTES: |
IN: American Journal of Human Genetics, vol. 64:1679-1685, 1999 |
| NOTES: |
"Achromatopsia, or total color blindness (also referred to as "rod monochromacy"), is a severe retinal disorder characterized clinically by an inability to distinguish colors, impaired visual acuity in daylight, photophobia, and nystagmus. Inherited as an autosomal recessive trait, achromatopsia is rare in the general population...Among the Pingelapese people of the Eastern Caroline Islands, however, the disorder occurs at an extremely high frequency, as recounted in Oliver Sack's popular book The Island of the Colorblind..." |
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