Oculocutaneous albinism type I
Oculocutaneous albinism type I |
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Oculocutaneous albinism type I or type 1A (OCA1A or OCAIA)[1] is an autosomal recessive skin disease. This subtype of oculocutaneous albinism is caused when the gene for tyrosinase (symbol TYR or OCA1) does not function properly.
The location of OCA1 may be written as "11q1.4-q2.1", meaning it is on chromosome 11, long arm, somewhere in the range of band 1, sub-band 4, and band 2, sub-band 1.
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