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Molecular Mapping of 21 Features Associated with Partial Monosomy 21: Involvement of the APP-SOD1 Region

We compared the phenotypes, karyotypes, and molecular data for six cases of partial monosomy 21. Regions of chromosome 21, the deletion of which corresponds to particular features of monosomy 21, were thereby defined. Five such regions were identified for 21 features. Ten of the features could be as...

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Détails bibliographiques
Auteurs principaux: Chettouh, Zoubida, Croquette, Marie-Françoise, Delobel, Bruno, Gilgenkrants, Simone, Leonard, Claude, Maunoury, Catherine, Prieur, Marguerite, Rethoré, Marie-Odile, Sinet, Pierre-Marie, Chery, Michèle, Delabar, Jean-Maurice
Format: Artigo
Langue:Inglês
Publié: 1995
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801243/
https://ncbi.nlm.nih.gov/pubmed/7611297
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