Weber, S <br/><br/>
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 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1018-4813 
<br/><br/><label>Standard No.: </label>10.1038/sj.ejhg.5200475  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Substitution<br/>Calcium--urine<br/>Chromosome Mapping<br/>Chromosomes, Human, Pair 3<br/>Claudins<br/>Cohort Studies<br/>DNA Mutational Analysis<br/>Female<br/>Genotype<br/>Haplotypes<br/>Humans<br/>Magnesium--blood<br/>Magnesium Deficiency--blood<br/>Male<br/>Membrane Proteins--genetics<br/>Mutation, Missense<br/>Nephrocalcinosis--complications<br/>Pedigree