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Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) Homozygosity for the Ile207 → Val substitution is not associated with a clinical or biochemical phenotype

机译：成人GM2神经节病（Sandhoff病）患者的每个HEXB等位基因中存在两个点突变的意义Ile207的纯合性→Val替代与临床或生化表型无关

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Redonnet-Vernhet Isabelle; Mahuran Don J.; Salvayre Robert; Dubas Frédéric; Levade Thierry;
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年度 1996
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1. Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) Homozygosity for the Ile207 → Val substitution is not associated with a clinical or biochemical phenotype [J] . Isabelle Redonnet-Vernhet, Don J. Mahuran, Robert Salvayre, Biochimica et biophysica acta. Molecular basis of disease: BBA . 1996,第2期

机译：成人GM2神经节病（Sandhoff病）患者的每个HEXB等位基因中存在两个点突变的意义Ile207的纯合性→Val替代与临床或生化表型无关
2. A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease). [J] . Rahman M. M., Chang HyeSook, Mizukami K., The Veterinary Journal . 2012,第3期

机译：玩具贵宾犬中的犬HEXB基因发生移码突变，带有GM2神经节病变体0（桑德霍夫病）。
3. Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect. [J] . Santoro M, Modoni A, Sabatelli M, Molecular genetics and metabolism . 2007,第1期

机译：慢性GM2神经节病型Sandhoff与新的错义HEXB基因突变相关，引起双重致病作用。
4. Canine GM2‐Gangliosidosis Sandhoff Disease Associated with a 3‐Base Pair Deletion in the HEXB Gene [O] . P. Wang, P.S. Henthorn, E. Galban, 2018

机译：与HEXB基因中的3个碱基对缺失相关的犬GM2-神经节病桑德霍夫病
5. Retrospective Diagnosis of Feline GM2 Gangliosidosis Variant 0 (Sandhoff-Like Disease) in Japan: Possible Spread of the Mutant Allele in the Japanese Domestic Cat Population [O] . Osamu YAMATO, Daisuke HAYASHI, Hiroyuki SATOH, 2008

机译：日本猫科动物GM2神经疾病变异0（Sandhoff样疾病）的回顾性诊断：日本国内猫群中突变等位基因的可能传播

Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) Homozygosity for the Ile207 → Val substitution is not associated with a clinical or biochemical phenotype

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