Mutation:LDLR/Mut/1246/C-T

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GENE LIST
家族性高Chol血症(FH) LDLR 常染色体劣性遺伝性高Chol血症 (ARH) LDLRAP1
家族性低βリポP血症 APOB 無βリポP血症 MTTP
アポリポP A-I, A-II, C-II欠損症 APOA1, APOA2, APOC2 レシチン:Cholアシルトランスフェラーゼ欠損症 LCAT
Cholエステル転送タンパク質欠損症 CETP 家族性リポPリパーゼ(LPL)欠損症 LPL
肝性リパーゼ欠損症 LIPC III型高脂血症 ・リポP糸球体腎症 APOE
Tangier病 ・家族性低HDL血症 ABCA1 シトステロール血症 ABCG5, ABCG8
脳腱黄色腫症 CYP27A1
Chol ... コレステロール; リポP ... リポタンパク質


Mutation R395W in Gene Mut
Nucleotide Position 1246 C→T Structural Position exon9
Effect Arg → Trp at 395
Name Morioka Class defective
Reference
  1. Yagi_K: J_Jpn_Atheroscler_Soc,1994,22,100
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