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Clinical characteristics and phenotypical and molecular analysis in a series of patients with refractory sprue. Preliminary results

✍ Scribed by Maurino, Eduardo; Cherniasky, Alejandra; Niveloni, Sonia I; Fittipaldi, Nahuel; Cabanne, Ana; Kogan, Zulema; Vazquez, Horacio; Pedreira, Silvia C.; Fiorini, Alcira; Davila, Maria; del Solar, Carlos Gonzalez; Bai, Julio C.


Book ID
122901251
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
202 KB
Volume
118
Category
Article
ISSN
0016-5085

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Down syndrome (DS) is caused in most cases by the presence of an extra chromosome 21. It has been shown that the DS phenotype is produced by duplication of only a small part of the long arm of chromosome 21, the 21q22 region, including and distal to locus D21S55. We present molecular investigations