Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3". [electronic resource]
Producer: 19960725Description: 1145-56 p. digitalISSN:- 0002-9297
- Albinism, Oculocutaneous -- classification
- Base Sequence
- Cells, Cultured
- DNA Primers
- Dihydroxyphenylalanine -- analysis
- Diseases in Twins -- genetics
- Exons
- Fluorescent Antibody Technique, Indirect
- Homozygote
- Humans
- Male
- Melanocytes -- cytology
- Membrane Glycoproteins
- Molecular Sequence Data
- Monophenol Monooxygenase -- genetics
- Oxidoreductases
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Proteins -- genetics
- Sequence Deletion
- Skin -- metabolism
- Twins, Dizygotic
- Tyrosine 3-Monooxygenase -- metabolism
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Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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