oculocutaneous albinism type IA (Q50349668)
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An oculocutaneous albinism that has material basis in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity.
- OCA1A
- Oculocutaneous Albinism, Tyrosinase-Negative
- oculocutaneous albinism type 1A
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | oculocutaneous albinism type IA |
An oculocutaneous albinism that has material basis in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity. |
|
Statements
1 reference
C168731
0 references
Identifiers
1 reference
1 reference