Article
Molecular analysis of an extended family with type IA (tyrosinase-negative) oculocutaneous albinism.
The Journal of investigative dermatology - 1 Jul 1991
Oetting W S, Handoko H Y, Mentink M M, Paller A S, White J G, King R A
Abstract excerpt
We have analyzed the tyrosinase coding region of three individuals having Type IA OCA within an extended family using genomic DNA amplification and dideoxy sequencing. Two of the affected individuals are dizygotic twins. All three have a common missense mutation at codon 81 (Pro----Leu) within exon I. The twins have a second missense mutation at codon 371 (Asn----Thr) within exon III and the third individual has...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.