Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. [electronic resource]
Producer: 20100311Description: 803-10 p. digitalISSN:- 1468-6244
- Adolescent
- Adult
- Amino Acid Sequence
- Base Sequence
- Blotting, Northern
- DNA -- chemistry
- Female
- Genetic Variation
- Hermanski-Pudlak Syndrome -- genetics
- Humans
- Immunohistochemistry
- Intracellular Signaling Peptides and Proteins -- genetics
- Male
- Melanosomes -- genetics
- Middle Aged
- Molecular Sequence Data
- Polymerase Chain Reaction
- Polymorphism, Single Nucleotide
- Young Adult
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural
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