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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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| Main Authors: | , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
1991
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1016961/ https://ncbi.nlm.nih.gov/pubmed/1910093 |
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