아주스토리 총 76 건
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Huntington dis.(헌팅턴) (CAG repeat)
▶ 검 사 명 Huntington dis. (CAG repeat) Pattern of Inheritance Gene Location mutation 상염색체 우성유전 HD (IT15) 4p16.3 (CAG)3-33 for normal (CAG)35-64 for mutation 1. 검사명 : Determination of the CAG repeat expansion in the HD gene for diagnosis of Huntington disease by...
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Huntington dis.(헌팅턴) (CAG repeat)
▶ 검 사 명 Huntington dis. (CAG repeat) Pattern of Inheritance Gene Location mutation 상염색체 우성유전 HD (IT15) 4p16.3 (CAG)3-33 for normal (CAG)35-64 for mutation 1. 검사명 : Determination of the CAG repeat expansion in the HD gene for diagnosis of Huntington disease by...
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Hallervorden-Spatz-synd.(HSS)(할러포르텐-스파츠)(PANK2 gene mutation)
▶ 검 사 명 Hallervorden-Spatz-synd.(HSS) (PANK2 gene mutation) Pattern of Inheritance Gene Location Common mutation 상염색체 열성 유전 PANK2 20p13 G1231A 1. 검사명 : Mutation analysis of the PANK2 gene for diagnosis of Hallervorden-Spatz-synd.(HSS) ▶ 검사 원리 상염색체 열성 유전되는 Hal...
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Hallervorden-Spatz-synd.(HSS)(할러포르텐-스파츠)(PANK2 gene mutation)
▶ 검 사 명 Hallervorden-Spatz-synd.(HSS) (PANK2 gene mutation) Pattern of Inheritance Gene Location Common mutation 상염색체 열성 유전 PANK2 20p13 G1231A 1. 검사명 : Mutation analysis of the PANK2 gene for diagnosis of Hallervorden-Spatz-synd.(HSS) ▶ 검사 원리 상염색체 열성 유전되는 Hal...
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Gaucher dis.(고셔병) (GBA gene mutation)
▶ 검 사 명 Gaucher dis. (GBA gene mutation) Pattern of Inheritance Gene Location Common mutation 상염색체 열성유전 GBA 1q21 G46E, L444P 1. 검사명: Mutation analysis of the GBA gene for diagnosis of Gaucher disease ▶ 검사 원리 고셔병 (Gaucher disease)은 lysosome의 가수분해효소인 Glucocereb...
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Gaucher dis.(고셔병) (GBA gene mutation)
▶ 검 사 명 Gaucher dis. (GBA gene mutation) Pattern of Inheritance Gene Location Common mutation 상염색체 열성유전 GBA 1q21 G46E, L444P 1. 검사명: Mutation analysis of the GBA gene for diagnosis of Gaucher disease ▶ 검사 원리 고셔병 (Gaucher disease)은 lysosome의 가수분해효소인 Glucocereb...
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Gaucher dis.(고셔병) (GBA enzyme activity by FACS assay)
▶ 검 사 명 Gaucher dis. (GBA enzyme activity by FACS assay) Pattern of Inheritance Gene Location Common mutation 상염색체 열성유전 GBA 1q21 G46E, L444P 1. 검사명 : Determination of the β-glucoserebrosidase(GBA)enzyme activityby FACS assay ▶ 검사 원리 고셔병 (Gaucher disease)은 lys...
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Gaucher dis.(고셔병) (GBA enzyme activity by FACS assay)
▶ 검 사 명 Gaucher dis. (GBA enzyme activity by FACS assay) Pattern of Inheritance Gene Location Common mutation 상염색체 열성유전 GBA 1q21 G46E, L444P 1. 검사명 : Determination of the β-glucoserebrosidase(GBA)enzyme activityby FACS assay ▶ 검사 원리 고셔병 (Gaucher disease)은 lys...
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Fragile X synd. (프래자일엑스증후군)(Southern Blot Analysis)
▶ 검 사 명 Fragile X synd. (Southern Blot Analysis) Pattern of Inheritance Gene Location X 염색체우성유전 FMR-1 (FRZXA) Xq27.3 1. 검사명 : Determination of the CGG repeat expansion in the FMR1 gene for diagnosis of Fragile X syndrome by Southern Blot analysis ▶ 검사 원리 Frag...
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Fragile X synd. (프래자일엑스증후군)(Southern Blot Analysis)
▶ 검 사 명 Fragile X synd. (Southern Blot Analysis) Pattern of Inheritance Gene Location X 염색체우성유전 FMR-1 (FRZXA) Xq27.3 1. 검사명 : Determination of the CGG repeat expansion in the FMR1 gene for diagnosis of Fragile X syndrome by Southern Blot analysis ▶ 검사 원리 Frag...
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