Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation.

X linked lissencephaly and subcortical band heterotopia (XLIS/SBH) is a disorder of cortical development, which causes classical lissencephaly with severe mental retardation and epilepsy in hemizygous males and SBH associated with milder mental retardation and epilepsy in heterozygous females. Here...

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Detalles Bibliográficos
Main Authors: Matsumoto, N, Pilz, D T, Fantes, J A, Kittikamron, K, Ledbetter, D H
Formato: Artigo
Idioma:Inglês
Publicado: 1998
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051458/
https://ncbi.nlm.nih.gov/pubmed/9783706
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