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A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

โœ Scribed by Rinchik, Eugene M.; Bultman, Scott J.; Horsthemke, Bernhard; Lee, Seung-Taek; Strunk, Kathleen M.; Spritz, Richard A.; Avidano, Karen M.; Jong, Michelle T. C.; Nicholls, Robert D.

Book ID
109782854
Publisher
Nature Publishing Group
Year
1993
Tongue
English
Weight
600 KB
Volume
361
Category
Article
ISSN
0028-0836

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The region of mouse Chromosome (Chr) 7 containing the mouse pink-eyed dilution locus, p, is syntenic with human chromosome 15q11-q13, a region associated with three human syndromes, Prader-Willi syndrome (PWS), Angelman syndrome (AS), and a form of hypomelanosis of Ito (HI). Because some mutant alle