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Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm
(Public Library of Science, 2013-09-18)
The p.Ala204Thr mutation (exon 7) of the CLCNKB gene is a "founder" mutation that causes most of type III Bartter syndrome cases in Spain. We performed genetic analysis of the CLCNKB gene, which encodes for the chloride ...
Accuracy in Copy Number Calling by qPCR and PRT : A Matter of DNA
(Public Library of Science, 2011-12-13)
The possible implication of copy number variation (CNV) in the genetic susceptibility to human disease needs to be assessed using robust methods that can be applied at a population scale. In this report, we analyze the ...
Pseudohypoparathyroidism Type Ib Associated with Novel Duplications in the GNAS Locus
(Public Library Science, 2015-02-24)
Context
Pseudohypoparathyroidism type 1b (PHP-Ib) is characterized by renal resistance to PTH (and, sometimes, a mild resistance to TSH) and absence of any features of Albright's hereditary osteodystrophy. Patients with ...