Gene Symbol: CASQ1
OMIM: 114250Chromosome location: 1q23.2
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | NA | 10 patients/3 families | NA | Di Blasi C et al., 2015Di Blasi C, Sansanelli S, Ruggieri A, Moriggi M, Vasso M, D'Adamo AP, Blasevich F, Zanotti S, Paolini C, Protasi F, Tezzon F, Gelfi C, Morandi L, Pessia M, Mora M, . A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.. J. Med. Genet.. 2015; 0(0): |
References
Di Blasi C, Sansanelli S, Ruggieri A, Moriggi M, Vasso M, D'Adamo AP, Blasevich F, Zanotti S, Paolini C, Protasi F, Tezzon F, Gelfi C, Morandi L, Pessia M, Mora M, A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.J. Med. Genet.. 2015; 0(0):