oculocutaneous albinism type IB (Q50349669)
Jump to navigation
Jump to search
An oculocutaneous albinism that has material basis in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity.
- Albinism, Yellow Mutant Type
- OCA1B
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | oculocutaneous albinism type IB |
An oculocutaneous albinism that has material basis in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity. |
|
Statements
1 reference
Identifiers
1 reference
1 reference