Abstract
The use of microsatellite markers provides a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Aged
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Blood Coagulation / genetics
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Carrier Proteins / blood
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Carrier Proteins / genetics*
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Codon, Nonsense
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DNA Mutational Analysis
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Dysbindin
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Dystrophin-Associated Proteins
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Female
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Genetic Predisposition to Disease
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Heredity
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Hermanski-Pudlak Syndrome / blood
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Hermanski-Pudlak Syndrome / genetics*
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Humans
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Microsatellite Repeats*
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Mutation*
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Pedigree
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Phenotype
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Prognosis
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Skin Pigmentation / genetics
Substances
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Carrier Proteins
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Codon, Nonsense
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DTNBP1 protein, human
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Dysbindin
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Dystrophin-Associated Proteins