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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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Bibliografske podrobnosti
Main Authors: Merry, D E, Jänne, P A, Landers, J E, Lewis, R A, Nussbaum, R L
Format: Artigo
Jezik:Inglês
Izdano: 1992
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC48611/
https://ncbi.nlm.nih.gov/pubmed/1549574
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