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Molecular Basis for Hypertension in the “Type II Variant” of Apparent Mineralocorticoid Excess

✍ Scribed by A. Li; R. Tedde; Z.S. Krozowski; A. Pala; K.X.Z. Li; C.H.L. Shackleton; F. Mantero; M. Palermo; P.M. Stewart


Book ID
117852498
Publisher
American Society of Human Genetics
Year
1998
Tongue
English
Weight
834 KB
Volume
63
Category
Article
ISSN
0002-9297

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A number of mutations in the X-chromosomal human iduronate-2-sulphatase gene have now been identified as the primary genetic defect leading to the clinical condition known as Hunter syndrome or mucopolysaccharidosis type 11. The mutations that are tabulated include different deletions, splice-site a