A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). [electronic resource]
Producer: 20060530Description: 160-6 p. digitalISSN:- 0002-9297
- Adenosine Triphosphate -- metabolism
- Adolescent
- Adult
- Carrier Proteins -- genetics
- Cell Line, Tumor
- Child
- Chromosomes, Human, Pair 19 -- genetics
- Epidermis -- ultrastructure
- Eye -- pathology
- Female
- Frameshift Mutation -- genetics
- Hermanski-Pudlak Syndrome -- genetics
- Humans
- Male
- Microscopy, Electron, Transmission
- Oligonucleotide Array Sequence Analysis
- Pakistan
- Pedigree
- Phenotype
- Platelet Aggregation -- genetics
- Polymorphism, Single Nucleotide
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Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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