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A novel splicing mutation of the ATRX gene in ATR-X syndrome

โœ Scribed by Takahito Wada; Masae Sakakibara; Yoshimitsu Fukushima; Shinji Saitoh


Book ID
113498307
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
191 KB
Volume
28
Category
Article
ISSN
0387-7604

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๐Ÿ“œ SIMILAR VOLUMES


Mutational analysis of the ATRX gene by
โœ Eugenia Borgione; Maurizio Sturnio; Angela Spalletta; Maria Angela Lo Giudice; L ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 146 KB

Molecular defects affecting the ATRX gene lead to the ATRX syndrome (alpha thalassemia/mental retardation syndrome, X-linked), characterized by severe mental retardation, microcephaly, distinct facial dysmorphism, and genital abnormalities, as well as a wide spectrum of other pathological features.