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Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496) → Cys, Gln(461) → Stop) actually cause combined 17α-hydroxylase/17,20-lyase deficiency
Yanase, Toshihiko, Waterman, Michael R., Zachmann, Milo, Winter, J.S.D., Simpson, Evan R, Kagimoto, MasaakiVolume:
1139
Année:
1992
Langue:
english
DOI:
10.1016/0925-4439(92)90100-2
Fichier:
PDF, 583 KB
english, 1992