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Normal superoxide dismutase-1 (SOD-1) activity with deletion of chromosome band 21q21 supports localization of SOD-1 locus to 21q22

โœ Scribed by E. A. Wulfsberg; R. E. Carrel; Ivana J. Klisak; T. J. O'Brien; J. A. Sykes; R. S. Sparkes


Publisher
Springer
Year
1983
Tongue
English
Weight
203 KB
Volume
64
Category
Article
ISSN
0340-6717

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โœ Yoshifumi Yamamoto; N. Ogasawara; A. Gotoh; H. Komiya; H. Nakai; Y. Kuroki ๐Ÿ“‚ Article ๐Ÿ“… 1979 ๐Ÿ› Springer ๐ŸŒ English โš– 358 KB

A female infant with del(21)(pter leads to q22.1--2:) constitution identified by G, Q, and R banding is reported. She had marked mental and physical retardation, generalized hypertonia, microphthalmia with persistent hypoplastic primary vitreous, blepharochalasia, high nasal bridge, micrognathia, ma