Tyrosinase positive albinism with familial 46,XY,t(2;4) (q31.2;q31.22) balanced translocation.
作者信息
Walpole I R, Mulcahy M T
机构信息
Department of Paediatrics, University of Western Australia, Princess Margaret Hospital for Children, Perth.
出版信息
J Med Genet. 1991 Jul;28(7):482-4. doi: 10.1136/jmg.28.7.482.
Abstract
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.
摘要
Zotero 插件