TY  - GEN
AU  - Weber,S
AU  - Hoffmann,K
AU  - Jeck,N
AU  - Saar,K
AU  - Boeswald,M
AU  - Kuwertz-Broeking,E
AU  - Meij,I I
AU  - Knoers,N V
AU  - Cochat,P
AU  - Suláková,T
AU  - Bonzel,K E
AU  - Soergel,M
AU  - Manz,F
AU  - Schaerer,K
AU  - Seyberth,H W
AU  - Reis,A
AU  - Konrad,M
TI  - Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene
SN  - 1018-4813
PY  - 2000///1016
KW  - Amino Acid Substitution
KW  - Calcium
KW  - urine
KW  - Chromosome Mapping
KW  - Chromosomes, Human, Pair 3
KW  - Claudins
KW  - Cohort Studies
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genotype
KW  - Haplotypes
KW  - Humans
KW  - Magnesium
KW  - blood
KW  - Magnesium Deficiency
KW  - Male
KW  - Membrane Proteins
KW  - genetics
KW  - Mutation, Missense
KW  - Nephrocalcinosis
KW  - complications
KW  - Pedigree
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/sj.ejhg.5200475
ER  -