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Identification and Functional Analysis of a SLC33A1: c.339T > G (p.Ser113Arg) Variant in the Original SPG42 Family

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  • Affiliation of Author(s):基础医学院

  • Journal:HUMAN MUTATION

  • Key Words:hereditary spastic paraplegias (HSP);exome sequencing;SLC33A1;mutation

  • First Author:毛飞

  • Document Code:1417758539073458177

  • Issue:0

  • Page Number:240-249

  • Number of Words:4

  • Translation or Not:no

  • Date of Publication:2015-08-13

  • Date of Publication:2015-08-13
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