아주스토리 총 76 건
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Spinal Muscular Atrophy (척수근육위축)(SMA) (SMN1 gene deletion)
▶ 검 사 명 Spinal Muscular Atrophy (SMA) (SMN1 gene deletion) Pattern of Inheritance Gene Location Common mutation 상염색체 열성유전 Survival Motor Neuron (SMN) 5q11.2-13.3 Deletion of SMN1 1. 검사명 : Detection of SMN1 gene deletion ▶ 검사 원리 Spinoal Muscular Atrophy (SMA)는...
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Spinal Muscular Atrophy (척수근육위축)(SMA) (SMN1 gene deletion)
▶ 검 사 명 Spinal Muscular Atrophy (SMA) (SMN1 gene deletion) Pattern of Inheritance Gene Location Common mutation 상염색체 열성유전 Survival Motor Neuron (SMN) 5q11.2-13.3 Deletion of SMN1 1. 검사명 : Detection of SMN1 gene deletion ▶ 검사 원리 Spinoal Muscular Atrophy (SMA)는...
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Rett synd.(레트 증후군)(MECP2 gene mutation)
▶ 검 사 명 Rett synd. (MECP2 gene mutation) Pattern of Inheritance Gene Location Common mutation X-linked methyl-CpG-binding protein 2 (MECP2) Xq28 T158M, R168X, R255X 1. 검사명: Mutation analysis of the MECP2 gene for diagnosis of Rett syndrome ▶ 검사 원리 Rett syndro...
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Rett synd.(레트 증후군)(MECP2 gene mutation)
▶ 검 사 명 Rett synd. (MECP2 gene mutation) Pattern of Inheritance Gene Location Common mutation X-linked methyl-CpG-binding protein 2 (MECP2) Xq28 T158M, R168X, R255X 1. 검사명: Mutation analysis of the MECP2 gene for diagnosis of Rett syndrome ▶ 검사 원리 Rett syndro...
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Prader-Willi synd.(프라더-윌리증후군)/Angelman synd.(앙겔만 증후군) (MS-PCR)
▶ 검 사 명 Prader-Willi synd./Angelman synd. (MS-PCR) Pattern of Inheritance Gene Location mutation X 염색체우성유전 SNRPN 15q11-13 Paternal deletion of a # 15q11-13 1. 검사명 : Diagnostic test of Prader-Willi synd./ Angelmansyndrome by MS-PCR analysis ▶ 검사 원리 프라더윌리증후군 (P...
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Prader-Willi synd.(프라더-윌리증후군)/Angelman synd.(앙겔만 증후군) (MS-PCR)
▶ 검 사 명 Prader-Willi synd./Angelman synd. (MS-PCR) Pattern of Inheritance Gene Location mutation X 염색체우성유전 SNRPN 15q11-13 Paternal deletion of a # 15q11-13 1. 검사명 : Diagnostic test of Prader-Willi synd./ Angelmansyndrome by MS-PCR analysis ▶ 검사 원리 프라더윌리증후군 (P...
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Oculocutaneous albinism type 1(눈피부백색증, 안피부백색증(眼皮膚白色症))(OCA1) (TYR gene mutation)
▶ 검 사 명 Oculocutaneous albinism type 1(OCA1) (TYR gene mutation) Pattern of Inheritance Gene Location mutation 상염색체 열성유전 TYR 11q14-q21 scattered 1. 검사명 : Mutation analysis of the TYR gene for diagnosis of Oculocutaneous albinism type 1(OCA1) ▶ 검사 원리 상염색체 열성 유...
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Oculocutaneous albinism type 1(눈피부백색증, 안피부백색증(眼皮膚白色症))(OCA1) (TYR gene mutation)
▶ 검 사 명 Oculocutaneous albinism type 1(OCA1) (TYR gene mutation) Pattern of Inheritance Gene Location mutation 상염색체 열성유전 TYR 11q14-q21 scattered 1. 검사명 : Mutation analysis of the TYR gene for diagnosis of Oculocutaneous albinism type 1(OCA1) ▶ 검사 원리 상염색체 열성 유...
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Multiple Endocrine Neoplasia(다발성 내분비선종증)(MEN2) (RET gene mutation)
▶ 검 사 명 Multiple Endocrine Neoplasia(MEN2) (RET gene mutation) Pattern of Inheritance Gene Location mutation 상염색체우성 유전 RET proto-oncogene 10q11.2 exon10-14 1. 검사명: Mutation analysis of the RET proto-oncogene for diagnosis of Multiple Endocrine Neoplasia(MEN2)...
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Multiple Endocrine Neoplasia(다발성 내분비선종증)(MEN2) (RET gene mutation)
▶ 검 사 명 Multiple Endocrine Neoplasia(MEN2) (RET gene mutation) Pattern of Inheritance Gene Location mutation 상염색체우성 유전 RET proto-oncogene 10q11.2 exon10-14 1. 검사명: Mutation analysis of the RET proto-oncogene for diagnosis of Multiple Endocrine Neoplasia(MEN2)...
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