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Minor Xp21 chromosome deletion in a male associated with expression of duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome

We are reporting a male patient who suffered from chronic granulomatous disease associated with cytochrome b(−245) deficiency and McLeod red cell phenotype, Duchenne muscular dystrophy, and retinitis pigmentosa. On cytogenetic analysis, he seemed to have a very subtle interstitial deletion of part o...

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Detalhes bibliográficos
Main Authors: Francke, Uta, Ochs, Hans D., de Martinville, Bérengère, Giacalone, Joseph, Lindgren, Valerie, Distèche, Christine, Pagon, Roberta A., Hofker, Marten H., van Ommen, Gert-Jan B., Pearson, Peter L., Wedgwood, Ralph J.
Formato: Artigo
Idioma:Inglês
Publicado em: 1985
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684578/
https://ncbi.nlm.nih.gov/pubmed/4039107
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