Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. [electronic resource]
Producer: 20001016Description: 414-22 p. digitalISSN:- 1018-4813
- Amino Acid Substitution
- Calcium -- urine
- Chromosome Mapping
- Chromosomes, Human, Pair 3
- Claudins
- Cohort Studies
- DNA Mutational Analysis
- Female
- Genotype
- Haplotypes
- Humans
- Magnesium -- blood
- Magnesium Deficiency -- blood
- Male
- Membrane Proteins -- genetics
- Mutation, Missense
- Nephrocalcinosis -- complications
- Pedigree
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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