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
- 25 August 1992
- journal article
- case report
- Published by Elsevier in Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
- Vol. 1139 (4) , 275-279
- https://doi.org/10.1016/0925-4439(92)90100-2
Abstract
No abstract availableKeywords
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