Mutation in GM2-gangliosidosis B1 variant.
Mutation in GM2-gangliosidosis B1 variant.
复制标题
GM2-神经节苷脂沉积症 B1 变异体突变。
DOI：
10.1111/j.1471-4159.1988.tb13266.x
复制
发表时间：
1988
影响因子：
4.7
通讯作者：
Suzuki,K
中科院分区：
文献类型：
--
作者：
Ohno,K;Suzuki,K
Fibroblasts from a patient with GM2‐gangliosidosis B1 variant contained mRNA of normal size but in reduced quantity for the β‐hexosaminidase α subunit. The nucleotide sequence of a cDNA clone that included the entire protein coding sequence was completely normal except for a sinde base substitution from G to A at no. 533, resulting in a change from arginine to histidine at amino acid no. 178. The same mutation was found in two other cDNA clones. The position of the mutation is ∼90 amino acids from the N‐terminus of the mature, processed enzyme. Computer analysis predicated substantial alterations in the secondary structure of the enzyme protein. These results provide new insight into functional domains of this enzyme.
