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Isolation of a candidate gene for choroideremia.
Choroideremia is an X chromosome-linked retinal dystrophy of unknown pathogenesis. We have isolated cDNAs from a human retinal library with a genomic probe located at the X chromosomal breakpoint in a female with choroideremia and an X;13 translocation. This cDNA spans the breakpoint in the X;13 tra...
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Huvudupphovsmän: | , , , , |
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Materialtyp: | Artigo |
Språk: | Inglês |
Publicerad: |
1992
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Ämnen: | |
Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC48611/ https://ncbi.nlm.nih.gov/pubmed/1549574 |
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