The conclution is that the achondroplasia patients have point mutation in the transmembrane domain of FGFR3 and the codon 380 is the hotspot of the mutation. ?

 
  • 軟骨發(fā)育不全患者出現FGFR3基因跨膜區的點(diǎn)突變,380位密碼子是軟骨發(fā)育不全患者突變的熱點(diǎn)。
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