Retina International's Scientific Newsletter

	Retina International's Scientific Newsletter
	Mutation Database Mutations of the HPS3 Gene

Recent update from: 17.08.2002

Phenotype	Mutation	Basechange	Nucleotide	Exon	Restriction Site	Classification & Remarks	Mutation Database	OMIM	Reference
Sequence						The mutation data for this gene are currently not adjusted to a standardised sequence and given as reported by the authors cited.
HPS3	3904bp del	del 3904 bp gDNA		01		Puerto Rican from Ciales Flanked by AluSg and AluY5 repeat		606118-0001	(1)

References

Anikster,Y., Huizing,M., White,J., Shevchenko,Y.O., Fitzpatrick,D.L., Touchman,J.W., Compton,J.G., Bale,S.J., Swank,R.T., Gahl,W.A., and Toro,J.R. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. 2001; Nat.Genet. 28: 376-380.
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