A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8. [electronic resource]
Producer: 20130103Description: 584-91 p. digitalISSN:- 1755-148X
- Base Sequence
- Carrier Proteins -- genetics
- Child
- DNA Mutational Analysis
- Genetic Testing
- Hermanski-Pudlak Syndrome -- genetics
- Humans
- Infant
- Infant, Newborn
- Male
- Membrane Glycoproteins -- metabolism
- Molecular Sequence Data
- Mutation -- genetics
- Nerve Tissue Proteins -- genetics
- Oxidoreductases -- metabolism
- RNA, Messenger -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural
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