作者: Goran Simic , Mihovil Mladinov , Durdica Seso Simic , Natasa Jovanov Milosevic , Atiqul Islam
DOI: 10.1007/S00401-007-0327-1
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摘要: … with SMA (six with SMA-I and two with SMA-II). All affected subjects were carrying a homozygous deletion of exon 7 in the SMN1 gene. Unlike controls, virtually free from HMN, all SMA …