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Dokumenttyp:
journal article 
Autor(en):
Aherrahrou, Z; Doehring, LC; Ehlers, EM; Liptau, H; Depping, R; Linsel-Nitschke, P; Kaczmarek, PM; Erdmann, J; Schunkert, H 
Titel:
An alternative splice variant in Abcc6, the gene causing dystrophic calcification, leads to protein deficiency in C3H/He mice. 
Abstract:
Dystrophic cardiac calcification (DCC) is an autosomal recessive trait characterized by calcium phosphate deposits in myocardial tissue. The Abcc6 gene locus was recently found to mediate DCC; however, at the molecular level the causative variants remain to be determined. Examining the sequences of Abcc6 cDNA in DCC-resistant C57BL/6 and DCC-susceptible C3H/He mice, we identified a missense mutation (Cys to Thr at codon 619, rs32756904) at the 3'-border of exon 14 that creates an additional don...    »
 
Zeitschriftentitel:
J Biol Chem 
Jahr:
2008 
Band / Volume:
283 
Heft / Issue:
12 
Seitenangaben Beitrag:
7608-15 
Sprache:
eng 
Print-ISSN:
0021-9258 
TUM Einrichtung:
hrungsmedizin