Article
Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.
European journal of human genetics : EJHG - 1 Jul 1999
Filisetti D, Ostermann G, von Bredow M, Strom T, Filler G, Ehrich J, Pannetier S, Garnier J M, Rowe P, Francis F, Julienne A, Hanauer A, Econs M J, Oudet C
Abstract excerpt
Thirty newly detected mutations in the PHEX gene are reported, and pooled with all the previously published mutations. The spectrum of mutations displayed 16% deletions, 8% insertions, 34% missense, 27% nonsense, and 15% splice site mutations, with two peaks in exon 15, and 17. Since 32.8% of PHEX amino acids were conserved in the endopeptidases family, the number of missense mutations detected at non-conserved...
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