A novel case of SLC4A4 compound heterozygous mutationsins exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms
A novel case of SLC4A4 compound heterozygous mutationsins exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms
复制标题
外显子-内含子边界区SLC4A4复合杂合突变一例表现为严重近端肾小管酸中毒和肾外症状
DOI：
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发表时间：
2018
期刊：
影响因子：
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通讯作者：
Nangaku M
中科院分区：
文献类型：
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作者：
Horita S;Simsek E;Simsek T;Ishiura H;Nakamura M;Satoh N;Seki G;Tsuji S;Nangaku M
