oculocutaneous albinism type IB (Q50349669)
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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 |
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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. |
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Statements
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Identifiers
1 reference
1 reference