Pseudodeficiency allele | 合法醫療器材資訊網
由RVervoort著作·1995·被引用32次—Apseudodeficiencyallele(D152N)ofthehumanbeta-glucuronidasegene.AmJHumGenet.1995Oct;57(4):798-804.,由BLTriggs-Raine著作·1992·被引用85次—WeanalyzedtheHEXAgeneofonepseudodeficientsubjectandidentifiedbothaC739-to-TsubstitutionthatchangesArg247→Trpononealleleanda ...,由BLTriggs-Raine著作·1992·被引用85次—Apseudodeficiencyallelecommoninnon-JewishTay-Sachscarriers:implicationsforcarrierscreening.AmJHumGenet.1992Oct;51(4):793-801.,由RMashima著作·2017·被引用4次—Apseudod...
pseudodeficiency allele中文 Profound Medical Uriscan “醫勝”牙科用雷射系統及其附件 Medtronic esu ForceTriad Nanostim Quadra Assura Getinge 533
A pseudodeficiency allele (D152N) of the human beta ... | 合法醫療器材資訊網
由 R Vervoort 著作 · 1995 · 被引用 32 次 — A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene. Am J Hum Genet. 1995 Oct;57(4):798-804. Read More
A pseudodeficiency allele common in non ... | 合法醫療器材資訊網
由 BL Triggs-Raine 著作 · 1992 · 被引用 85 次 — We analyzed the HEXA gene of one pseudodeficient subject and identified both a C739-to-T substitution that changes Arg247→Trp on one allele and a ... Read More
A pseudodeficiency allele common in non | 合法醫療器材資訊網
由 BL Triggs-Raine 著作 · 1992 · 被引用 85 次 — A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening. Am J Hum Genet. 1992 Oct;51(4):793-801. Read More
Enzyme activities of α | 合法醫療器材資訊網
由 R Mashima 著作 · 2017 · 被引用 4 次 — A pseudodeficiency allele is a mutation that generates an altered protein product but does not cause disease. Among LSDs, it is well-known that there are some ... Read More
Identification of a novel pseudodeficiency allele in the GLB1 ... | 合法醫療器材資訊網
由 L Gort 著作 · 2007 · 被引用 13 次 — The term 'pseudodeficiency' is used in lysosomal storage diseases to denote the situation in which individuals show greatly reduced enzyme activity but remain ... Read More
Mutations in the arylsulfatase A pseudodeficiency ... | 合法醫療器材資訊網
由 V Gieselmann 著作 · 1991 · 被引用 67 次 — Homozygosity for the pseudodeficiency allele is associated with low arylsulfatase A activity but does not cause a disease. Analysis of the arylsulfatase A gene in ... Read More
Mutations in the arylsulfatase A pseudodeficiency ... | 合法醫療器材資訊網
由 V Gieselmann 著作 · 1991 · 被引用 67 次 — Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. Am J Hum Genet. 1991 Aug;49(2):407-13. Read More
NTSAD | 合法醫療器材資訊網
NTSAD - I have a “pseudodeficiency allele”. What does this mean? ... A “pseudodeficiency allele” reduces enzyme activity but does not cause a disease. A ... Read More
Pompe Disease | 合法醫療器材資訊網
A pseudodeficiency allele is a change in the GAA gene sequence which results in lower GAA enzyme activity, but not low enough to cause Pompe disease. Read More
Pseudodeficiency alleles | 合法醫療器材資訊網
A pseudodeficiency allele or pseudodeficiency mutation is a mutation that alters the protein product or changes the gene's expression, but without causing ... Read More
相關資訊整理
【“歐文” 染色體培養組 (未滅菌)】許可證字號:衛部醫器輸壹字第015731號
器材品名:“歐文”染色體培養組(未滅菌)許可證字號:衛部醫器輸壹字第015731號註銷狀態:註銷日期:註銷理由:有效日期:2020/10/08...