Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex
about
Alpha thalassaemia-mental retardation, X linkedX-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis2003 William Allan Award address. The Thalassemias: the role of molecular genetics in an evolving global health problemDysmorphology demystifiedComparative analysis of the ATRX promoter and 5' regulatory region reveals conserved regulatory elements which are linked to roles in neurodevelopment, alpha-globin regulation and testicular functionα-thalassaemiaAlpha thalassaemia/mental retardation syndrome (non-deletional type): report of a family supporting X linked inheritance.X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.Comparative plasma protein profiling of hemoglobin H disease.ATRX has a critical and conserved role in mammalian sexual differentiationFrom genotype to phenotype: genetics and medical practice in the new millennium.α-Thalassemia, mental retardation, and myelodysplastic syndrome.A normal beta-globin allele as a modifier gene ameliorating the severity of alpha-thalassemia in mice.State of the art review in gonadal dysgenesis: challenges in diagnosis and management.Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.Angelman syndrome.Introductory Speech for Sir David Weatherall*.
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P2860
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex
description
1990 nî lūn-bûn
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1990 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
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name
Clinical features and molecula ...... ty of the alpha globin complex
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Clinical features and molecula ...... ty of the alpha globin complex
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type
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Clinical features and molecula ...... ty of the alpha globin complex
@ast
Clinical features and molecula ...... ty of the alpha globin complex
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prefLabel
Clinical features and molecula ...... ty of the alpha globin complex
@ast
Clinical features and molecula ...... ty of the alpha globin complex
@en
P2093
P2860
P1476
Clinical features and molecula ...... ty of the alpha globin complex
@en
P2093
Fischel-Ghodsian N
Gardner-Medwin D
Lindenbaum RH
MacGillivray MH
Weatherall DJ
Zeitlin HC
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P304
P407
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1990-06-01T00:00:00Z