Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.

Weber, S

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. [electronic resource] - European journal of human genetics : EJHG Jun 2000 - 414-22 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1018-4813

10.1038/sj.ejhg.5200475 doi


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