Mutation of TPRM6 causes familial hypomagnesemia with secondary hypocalcemia

Nature Genetics

Volumn 31, Issue 2, 2002, Pages 171-174

  Walder, Roxanne Y ^a   Landau, Daniel ^b   Meyer, Peter ^c   Shalev, Hanna ^b   Tsolia, Maria ^d   Borochowitz, Zvi ^e   Boettger, Melanie Barbara ^c   Beck, Gretel E ^a   Englehardt, Richard K ^a   Carmi, Rivka ^b   Sheffield, Val C ^a  

^a UNIVERSITY OF IOWA   (United States)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^e BNAI ZION MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ION CHANNEL; MAGNESIUM; TRANSIENT RECEPTOR POTENTIAL CHANNEL M; TRPM6 PROTEIN, HUMAN;

ARTICLE; BLOOD; DNA SEQUENCE; GENETICS; HUMAN; HYPOCALCEMIA; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; ANIMAL TISSUE; CONTROLLED STUDY; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; GENOTYPE; HUMAN TISSUE; HYPOMAGNESEMIA; MAGNESIUM EXCRETION; MOUSE; NONHUMAN; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

DNA MUTATIONAL ANALYSIS; HUMANS; HYPOCALCEMIA; ION CHANNELS; MAGNESIUM; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE ANALYSIS, DNA; TRPM CATION CHANNELS;

EID: 0036592004     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng901     Document Type: Article

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