机译:肢体型染发剂的表型染色症患者携带GFPT1突变
Natl Ctr Neurol &
Psychiat Natl Ctr Hosp Dept Neurol 4-1-1 Ogawahigashi Kodaira Tokyo 1878551;
Natl Ctr Neurol &
Psychiat Natl Ctr Hosp Dept Neurol 4-1-1 Ogawahigashi Kodaira Tokyo 1878551;
Natl Ctr Neurol &
Psychiat Natl Inst Neurosci Dept Neuromuscular Res 4-1-1 Ogawahigashi Kodaira;
Natl Ctr Neurol &
Psychiat Natl Inst Neurosci Dept Neuromuscular Res 4-1-1 Ogawahigashi Kodaira;
Natl Ctr Neurol &
Psychiat Natl Ctr Hosp Dept Neurol 4-1-1 Ogawahigashi Kodaira Tokyo 1878551;
Natl Ctr Neurol &
Psychiat Natl Ctr Hosp Dept Neurol 4-1-1 Ogawahigashi Kodaira Tokyo 1878551;
Natl Ctr Neurol &
Psychiat Natl Inst Neurosci Dept Neuromuscular Res 4-1-1 Ogawahigashi Kodaira;
Natl Ctr Neurol &
Psychiat Natl Ctr Hosp Dept Neurol 4-1-1 Ogawahigashi Kodaira Tokyo 1878551;
机译:肢体型染发剂的表型染色症患者携带GFPT1突变
机译:3'-UTR突变在先天性肌无力综合征患者的GFPT1基因中产生microRNA靶位点
机译:先天性染色综合征患者的杂合性突变肢体肌肌肌炎肌无力
机译:鉴定DPAGT1作为突变引起先天性染发素综合征的新基因
机译:对Peters Plus综合征和先天性障碍的分子机制调查重叠表型
机译:先天性染色症综合征由GFPT1中的框架插入突变引起
机译:GFPT1中的突变,下肢腰带先天性敏感综合征导致肌肉ACHR的细胞表面表达降低