Article
Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions.
Human mutation - 1 Jan 1999
Lopez Correa C, Brems H, Lázaro C, Estivill X, Clementi M, Mason S, Rutkowski J L, Marynen P, Legius E
Abstract excerpt
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized by a marked variability in expression. A more severe phenotype is frequently observed in the group of patients carrying a large NF1 deletion. To study the extent of the microdeletion in these NF1 patients, we generated a partial physical map of the NF1 flanking region. We describe seven PACs and three new polymorphic dinucleotide...
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