A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2020; you can also visit the original URL.
The file type is application/pdf.
Preliminary Localization of a Gene for Autosomal Dominant Hypoparathyroidism to Chromosome 3ql3
1994
Pediatric Research
Preserved Fulltext
A large family in which hypoparathyroidism was observed to segregate as an autosomal dominant trait in three generations was identilied. Mutation in the FTH gene was excluded by linkage and single-stranded conformational analysis. The hypocalcemic phenotype in this family was mapped by linkage analysis using short, tandem-repeat polymorphisms to the region of chromosome 3q13. A maximum lod score of 2.71 at O = 0.0 was observed with marker D3S1303. Positive lod scores were observed at O = 0.0
doi:10.1203/00006450-199409000-00024
pmid:7808841
fatcat:dnstesnbyjd3lmhbh2c4uubjqy