Article
Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).
Human molecular genetics - 1 Apr 1997
Rowe P S, Oudet C L, Francis F, Sinding C, Pannetier S, Econs M J, Strom T M, Meitinger T, Garabedian M, David A, Macher M A, Questiaux E, Popowska E, Pronicka E, Read A P, Mokrzycki A, Glorieux F H, Drezner M K, Hanauer A, Lehrach H, Goulding J N, O'Riordan J L
Abstract excerpt
Mutations in the PEX gene at Xp22.1 (phosphate-regulating gene with homologies to endopeptidases, on the X-chromosome), are responsible for X-linked hypophosphataemic rickets (HYP). Homology of PEX to the M13 family of Zn2+ metallopeptidases which include neprilysin (NEP) as prototype, has raised important questions regarding PEX function at the molecular level. The aim of this study was to analyse 99 HYP...
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