Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism?

Vorster AA, Rebello MT, Coutts N, Ehrenreich L, Gama AD, Roberts LJ, Goliath R, Ramesar R, Greenberg LJ
Clin Genet. 2004 65 (1): 7-10

PMID: 15032968 · DOI:10.1111/j..2004.00163.x

MeSH Terms (19)

Adult Aged Arginine Codon, Nonsense DNA Mutational Analysis Epigenesis, Genetic Exons Eye Proteins Female GTP-Binding Proteins Humans Intracellular Signaling Peptides and Proteins Male Membrane Proteins Microtubules Mosaicism Pedigree Retinitis Pigmentosa Risk Assessment

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