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Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kücükceylan N, Abdel-Nour M, Gewies A, Peters H, Kaufmann D, Buske A, Tinschert S, Nürnberg P. Fahsold R, et al. Among authors: hoffmeyer s. Am J Hum Genet. 2000 Mar;66(3):790-818. doi: 10.1086/302809. Am J Hum Genet. 2000. PMID: 10712197 Free PMC article.
Unequal expression of NF1 alleles.
Hoffmeyer S, Assum G, Kaufmann D, Krone W. Hoffmeyer S, et al. Nat Genet. 1994 Apr;6(4):331. doi: 10.1038/ng0494-331. Nat Genet. 1994. PMID: 8054969 No abstract available.
Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo.
Hoffmeyer S, Burk O, von Richter O, Arnold HP, Brockmöller J, Johne A, Cascorbi I, Gerloff T, Roots I, Eichelbaum M, Brinkmann U. Hoffmeyer S, et al. Proc Natl Acad Sci U S A. 2000 Mar 28;97(7):3473-8. doi: 10.1073/pnas.97.7.3473. Proc Natl Acad Sci U S A. 2000. PMID: 10716719 Free PMC article.
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