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Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male.

The rare association of alpha thalassaemia and mental retardation has been described previously. Molecular studies of the alpha globin cluster in these cases have been heterogeneous, with some patients having large deletions while in others the alpha globin complex appears to be intact (non-deletion...

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Bibliografske podrobnosti
izdano v:J Med Genet
Main Authors: Harvey, M P, Kearney, A, Smith, A, Trent, R J
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 1990
Teme:
Online dostop:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017221/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2231651/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.27.9.577
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