Article
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.
Human molecular genetics - 1 Dec 1995
Schiaffino M V, Bassi M T, Galli L, Renieri A, Bruttini M, De Nigris F, Bergen A A, Charles S J, Yates J R, Meindl A
Abstract excerpt
The locus for ocular albinism type 1 (OA1) has been assigned to the Xp22.3 region through both linkage and deletion mapping. The disorder was found to be genetically homogeneous, as all informative families showed convincing linkage data with markers on Xp22.3 and all identified deletions involve...
Topics
- Albinism, Ocular
- Base Sequence
- DNA
- Dinucleotide Repeats
- Eye Proteins
- Membrane Glycoproteins
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Protein Conformation
- X Chromosome