Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.

We have identified five unrelated patients, all of north European origin, who have hemoglobin H (Hb H) disease and profound mental handicap. Surprisingly, detailed molecular analysis of the alpha globin complex is normal in these subjects. Clinically, they present with a rather uniform constellation...

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Detalhes bibliográficos
Main Authors: Wilkie, A O, Zeitlin, H C, Lindenbaum, R H, Buckle, V J, Fischel-Ghodsian, N, Chui, D H, Gardner-Medwin, D, MacGillivray, M H, Weatherall, D J, Higgs, D R
Formato: Artigo
Idioma:Inglês
Publicado em: 1990
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683828/
https://ncbi.nlm.nih.gov/pubmed/2339705
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