Oculocutaneous albinism type 1A (Q65037): Difference between revisions
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O OCA-1 é causado por mutação no gene da tirosinase (TYR). OCA-1A é devido à ausência completa de tirosinase e é um fenótipo clínico mais grave do que OCA-1B. | |||
| description / en | description / en | ||
OCA-1 is caused by mutation in the tyrosinase gene (TYR). OCA-1A is due to complete absence of TYR and a more severe clinical phenotype than OCA-1B. | |||
Revision as of 12:45, 14 August 2026
OCA-1 is caused by mutation in the tyrosinase gene (TYR). OCA-1A is due to complete absence of TYR and a more severe clinical phenotype than OCA-1B.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1168847652 |
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| English | Oculocutaneous albinism type 1A |
OCA-1 is caused by mutation in the tyrosinase gene (TYR). OCA-1A is due to complete absence of TYR and a more severe clinical phenotype than OCA-1B. |
