Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE.

Two unrelated boys are described with delay in development and submicroscopic deletions in Xq28, near FRAXE. Molecular diagnosis to exclude the fragile X (FRAXA) syndrome used the direct probe pfxa3, together with a control probe pS8 (DXS296), against PstI restriction digests of DNA. Deletions were...

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Autors principals: Gedeon, A K, Meinänen, M, Adès, L C, Kääriäinen, H, Gécz, J, Baker, E, Sutherland, G R, Mulley, J C
Format: Artigo
Idioma:Inglês
Publicat: 1995
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801213/
https://ncbi.nlm.nih.gov/pubmed/7536393
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