Canadian Mennonites and individuals residing in the Friesland region of the Netherlands share the same molecular basis of 17?-hydroxylase deficiency
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00207050.pdf
Reference13 articles.
1. Biglieri EG, Herron MA, Brust N (1966) 17-Hydroxylation deficiency in man. J Clin Invest 45:1946?1954
2. Gyllensten UB, Erlich HA (1988) Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus. Proc Natl Acad Sci USA 85:7652?7656
3. Kagimoto M, Winter JSD, Kagimoto K, Simpson ER, Waterman MR (1988) Structural characterization of normal and mutant human steroid 17?-hydroxylase genes: molecular basis of one example of combined 17?-hydroxylase/17,20-lyase deficiency. Mol Endocrinol 2:564?570
4. Kagimoto K, Waterman MR, Kagimoto M, Ferreira P, Simpson ER, Winter JSD (1989) Identification of a common molecular basis for combined 17?-hydroxylase/17,20-lyase deficiency in two Mennonite families. Hum Genet 82:285?286
5. Lange WE de, Doorenbos H (1990) Incomplete virilization and subclinical mineralocorticoid excess in a boy with partial 17,20-desmolase/17?-hydroxylase deficiency. Acta Endocrinol 122:263?266
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