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Mutation of a new gene causes a unique form of Hermansky?Pudlak syndrome in a genetic isolate of central Puerto Rico.
- Published in:
- Nature Genetics, 2001, v. 28, n. 4, p. 376, doi. 10.1038/ng576
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- Article
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.
- Published in:
- Human Genetics, 2000, v. 106, n. 5, p. 492, doi. 10.1007/s004390000284
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- Publication type:
- Article