The mutation itself is in a gene for a nerve-cell protein of a type known as an ion channel.

变异的基因是编码一种叫做离子通道的神经细胞蛋白质。

youdao

A partial tandem duplication is a type of gene mutation that occurs when a section of a gene is repeated, like a stutter in the gene's DNA.

部分串联复制是基因突变的一个类型，当一个基因片断重复时发生，就像停顿基因。

youdao

Objective To study the gene mutation and clinical characteristic of hereditary spinocerebellar ataxia type 7 (SCA7).

目的研究遗传性脊髓小脑性共济失调7型（SCA7）的基因突变和临床特征。

youdao

Oculocutaneous albinism type 4, caused by a gene mutation on chromosome 5, is an uncommon form of the disorder generally presenting signs and symptoms similar to those of type 2.

CNN: Albinism

The rarer oculocutaneous albinism type 3 is caused by a gene mutation on chromosome 9 and has been primarily identified in black South Africans.

CNN: Albinism

Oculocutaneous albinism type 1 is caused by a mutation in a gene on chromosome 11.

CNN: Albinism