Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.

Abstract excerpt

Several types of autosomal recessive oculocutaneous albinism (OCA) are associated with abnormal tyrosinase function and a generalized reduction in or absence of cutaneous and eye melanin. Each is thought to result from a different mutant allele at the tyrosinase locus, with the mutation producing an enzyme with little or no activity in all involved tissues. In this paper, we report a new type of OCA that results...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Biochemical Analysis and Sensing Techniques
• Share to melanin and skin pigmentation
• Share to Skin Protection and Aging