Article
Analysis of segregation and expression of an identified mutation at the neurofibromatosis type 1 locus.
Human genetics - 1 Dec 1992
Stark M, Assum G, Kaufmann D, Kehrer H, Krone W
Abstract excerpt
A previously identified complex mutation, affecting exon 28 of the neurofibromatosis type 1 gene, was employed for the analysis of the expression pattern in primary cultures of neurofibroma cells and melanocytes from a café-au-lait macule of the patient, respectively. Reverse transcription and subsequent polymerase chain reaction amplification of the segment carrying the mutation revealed that both alleles were...
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