Newborn screening for Fabry disease: Is the A143T allele a pathogenic mutation or a pseudodeficiency allele?

Atherton Andrea M.; Doheny Dana; Peck Dawn; Christensen Katherine; Smith Kayla; Manwaring Linda; Kiesling Jami; Hillman Richard; Font-Montgomery Esperanza; Shinawi Marwan; Grange Dorothy K.; Desnick Robert J.; Heese Bryce A.

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Newborn screening for Fabry disease: Is the A143T allele a pathogenic mutation or a pseudodeficiency allele?

机译：新生儿法布里疾病筛查：A143T等位基因是致病突变还是假缺陷等位基因？

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《Molecular genetics and metabolism》 |2015年第2期|共2页
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Atherton Andrea M.; Doheny Dana; Peck Dawn; Christensen Katherine; Smith Kayla; Manwaring Linda; Kiesling Jami; Hillman Richard; Font-Montgomery Esperanza; Shinawi Marwan; Grange Dorothy K.; Desnick Robert J.; Heese Bryce A.;
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正文语种 eng
中图分类内分泌腺疾病及代谢病;
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1. Newborn screening for Fabry disease: Is the A143T allele a pathogenic mutation or a pseudodeficiency allele? [J] . Atherton Andrea M., Doheny Dana, Peck Dawn, Molecular genetics and metabolism . 2015,第2期

机译：新生儿法布里疾病筛查：A143T等位基因是致病突变还是假缺陷等位基因？
2. Fabry disease: Incidence of pathogenic GIA mutations estimated by newborn screening studies [J] . Nowak Albina, Desnick Robert J. Molecular genetics and metabolism . 2019,第2期

机译：法布里病：新生儿筛查研究估计的致病性GIA突变的发病率
3. Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy. [J] . Rafi MA, Coppola S, Liu SL, Molecular genetics and metabolism . 2003,第2期

机译：常见的芳基硫酸酯酶A假缺陷等位基因在顺式中引起疾病的突变使准确识别患者和变色性白细胞营养不良的携带者变得更加困难。
4. Efficient Inference of Haplotypes from Genotypes on a Pedigree with Mutations and Missing Alleles (Extented Abstract) [C] . Wei-Bung Wang, Tao Jiang Combinatorial pattern matching . 2009

机译：从带有突变和缺失等位基因的谱系中的基因型有效推断单倍型（扩展摘要）
5. Newborn Screening for Fabry Disease in the United States: Evaluation of the Psychosocial Impacts on Family Members [D] . Momohara, Christie-Brianna K. 2015

机译：美国法布里病的新生儿筛查：对家庭成员的社会心理影响的评估
6. Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles [O] . Daniel Oder, Dorothee Vergho, Georg Ertl, 2016

机译：一名携带两个α-半乳糖苷酶A基因突变等位基因的45岁女性法布里病女性患者的病例报告
7. PREVALENCE OF CLINICALLY APPARENT HYPERTROPHIC CARDIOMYOPATHY IN 32 PATIENTS WITH THE GLA A143T MUTATION: IMPLICATIONS FOR GENETIC SCREENING FOR FABRY DISEASE IN PATIENTS WITH HYPERTROPHIC CARDIOMYOPATHY [O] . Cook Christopher, Farber-Eger Eric, Wang Thomas, 2015

机译：患有GLA A143T突变的32例临床上明显的肥大性心肌病患病率：对遗传性筛查肥大性心肌病患者的纤维化疾病的意义
8. Ethyl Methanesulfonate-Induced Mutations of Major Genes for Quantitative Phenotypes: Mutant Alleles for Altered Activity of Brain or Liver Enzymes in C57BL/6J Mice and Their Inheritance Across Several Generations [R] . McGarrity, L. J. 1984

机译：甲基磺酸乙酯诱导的定量表型主要基因突变：C57BL / 6J小鼠脑或肝酶改变活性的突变等位基因及其在几代中的遗传

Newborn screening for Fabry disease: Is the A143T allele a pathogenic mutation or a pseudodeficiency allele?

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