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Tyrosinase positive albinism with familial 46,XY,t(2;4) (q31.2;q31.22) balanced translocation.

A subject with clinical and biochemical tyrosinase positive oculocutaneous albinism (OCA) also had a balanced translocation, 46,XY,t(2;4)(q31.2;q31.22). This observation provides evidence for a possible gene locus in the q31 region of chromosome 2 or 4.

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Bibliografske podrobnosti
Main Authors: Walpole, I R, Mulcahy, M T
Format: Artigo
Jezik:Inglês
Izdano: 1991
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016961/
https://ncbi.nlm.nih.gov/pubmed/1910093
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