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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Matsumoto, N, Pilz, D T, Fantes, J A, Kittikamron, K, Ledbetter, D H
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1998
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051458/
https://ncbi.nlm.nih.gov/pubmed/9783706
Tagiau: Ychwanegu Tag
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