title: A 90 kb DNA deletion associated with neurofibromatosis type 1.
abstract: A deletion of 90 kb of DNA has been identified in a patient with neurofibromatosis type 1, using pulsed field gel electrophoresis. The deletion lies between probes 17L1A and AC5 in the critical region of chromosome 17 and represents the only molecular alteration found by PFGE in a series of 90 unrelated patients. The subject showing the deletion is an isolated case, shows typical clinical features, and represents one of the first examples of a molecular deletion to be found in this disorder.
authors: Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.
authors: M
authors: M
authors: Upadhyaya
authors: A
authors: A
authors: Cheryson
authors: W
authors: W
authors: Broadhead
authors: A
authors: A
authors: Fryer
authors: D J
authors: DJ
authors: Shaw
authors: S
authors: S
authors: Huson
authors: M R
authors: MR
authors: Wallace
authors: L B
authors: LB
authors: Andersen
authors: D A
authors: DA
authors: Marchuk
authors: D
authors: D
authors: Viskochil
mesh_terms: D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D004252:DNA Mutational Analysis; D005819:Genetic Markers; D006801:Humans; D009456:Neurofibromatosis 1 / Q000145:classification / Q000235:genetics*
chemical_list: D005819:Genetic Markers