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01
231005
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GAUCHER DISEASE, TYPE IIIC
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Disease
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Chemicals
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Biological Phenomena
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Anatomy
:
Organisms
Disease
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01
Gaucher Disease
Gaucher病
Calcinosis
石灰沈着症
Heart Valve Diseases
心臓弁膜症
Aortic Diseases
大動脈疾患
Apraxias
失行症
Corneal Opacity
角膜混濁
Hydrocephalus
水頭症
Cardiomyopathies
心筋疾患
Deafness
聾
Syndrome
症候群
Chemicals
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MeSH term
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01
Glucosylceramidase
グルコシルセラミダーゼ
Biological Phenomena
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MeSH term
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01
Homozygote
ホモ接合体
Mutation
変異
Amino Acid Substitution
アミノ酸置換
Genotype
遺伝子型
Polymorphism, Single-Stranded Conformational
PCR-SSCP法
Base Sequence
塩基配列
Genetic Variation
遺伝的多様性
Exons
エクソン
Amino Acid Sequence
アミノ酸配列
Anatomy
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MeSH term
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01
Mitral Valve
僧帽弁
Heart Valves
心臓弁
Meninges
髄膜
Aorta, Thoracic
下行大動脈
Vacuoles
空胞
Aortic Valve
大動脈弁
Oculomotor Muscles
眼筋
Toes
足指
Spinal Cord
脊髄
Inclusion Bodies
封入体
Bone Marrow
骨髄
Spleen
脾臓
Liver
肝臓
Fibroblasts
線維芽細胞
Brain
脳
Organisms
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01
Humans
ヒト
Database Center for Life Science