Autosomal recessive SLC30A9 variants in a proband with a cerebrorenal syndrome and no parental consanguinity
先证者患有脑肾综合征，且父母无近亲结婚史，其携带常染色体隐性SLC30A9变异
期刊:Cold Spring Harbor Molecular Case Studies
影响因子:1.8
doi:10.1101/mcs.a006137
Kleyner, Robert; Arif, Mohammad; Marchi, Elaine; Horowitz, Naomi; Haworth, Andrea; King, Brian; Gavin, Maureen; Amble, Karen; Velinov, Milen; Lyon, Gholson J
