Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Johnathan N. Goulding"'
Autor:
J. L. H. O'Riordan, Tim M. Strom, C. Oudet, Thomas Meitinger, Solange Pannetier, Johnathan N. Goulding, Christiane Sinding, Marc K. Drezner, Ewa Popowska, Ewa Pronicka, Peter S. N. Rowe, André Hanauer, Marie Alice Macher, Michèle Garabédian, Albert David, Andrew P. Read, Elisabeth Questiaux, Francis H. Glorieux, Agnes Mokrzycki, Hans Lehrach, Mike J. Econs, Fiona Francis
Publikováno v:
Human Molecular Genetics. 6:539-549
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 Zn 2+ metallopeptidases which i