Hypomagnesemia with secondary hypocalcemia is caused by mutations in TPRM6, a new member of the TPRM gene family

Nature Genetics

Volumn 31, Issue 2, 2002, Pages 166-170

  Schlingmann, Karl P ^a   Weber, Stefanie ^a   Peters, Melanie ^a   Nejsum, Lene Niemann ^b   Vitzthum, Helga ^c   Klingel, Karin ^d   Kratz, Markus ^e   Haddad, Elie ^f   Ristoff, Ellinor ^g   Dinour, Dganit ^h   Syrrou, Maria ⁱ   Nielsen, Søren ^b   Sassen, Martin ^a   Waldegger, Siegfried ^a   Seyberth, Hannsjörg W ^a   Konrad, Martin ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b AARHUS UNIVERSITY   (Denmark)

^c UNIVERSITY OF REGENSBURG   (Germany)

^d UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^e UNIVERSITY OF HEIDELBERG   (Germany)

^f HÔPITAL ROBERT DEBRÉ   (France)

^g KAROLINSKA INSTITUTE   (Sweden)

^h SHEBA MEDICAL CENTER   (Israel)

ⁱ UNIVERSITY OF IOANNINA   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

MAGNESIUM;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CATION EXCHANGE; CHROMOSOME 9Q; ENZYME ACTIVITY; EPITHELIUM CELL; GENE MAPPING; GENE MUTATION; HUMAN; HUMAN CELL; HYPOCALCEMIA; HYPOMAGNESEMIA; INTESTINE ABSORPTION; KIDNEY TUBULE EPITHELIUM; MAGNESIUM DEFICIENCY; MULTIGENE FAMILY; PRIORITY JOURNAL; STOP CODON;

ADULT; FEMALE; HAPLOTYPES; HUMANS; HYPOCALCEMIA; INFANT; INFANT, NEWBORN; ION CHANNELS; MAGNESIUM; MALE; MOLECULAR SEQUENCE DATA; MULTIGENE FAMILY; MUTATION; PEDIGREE; SEQUENCE ANALYSIS, DNA; TRPM CATION CHANNELS;

EID: 18544369466     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng889     Document Type: Article

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