Objective Mutations of 13 CODIS (Combined DNA Index System) STR core loci in 532 cases of paternity testing were observed in confirming paternity, the mutation rate and the mutation type were studied.

目的观察美国CODIS系统的13个STR基因座在532例认定亲子关系的亲子鉴定案中的基因突变情况，探讨STR基因座突变率及突变类型。

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Longo's research led him first to a particular type of genetic mutation and ultimately to the mountains of southern Ecuador to study people with Laron syndrome.

朗格首先发现了一种特殊的基因变异，然后顺藤摸瓜，找到了厄瓜多尔南部山区的一群有莱伦氏综合症的人。

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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。

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The new medicine, eteplirsen, is targeted at the 13% of those boys whose muscular dystrophy is caused by a certain type of mutation.

FORBES: In A First, An Experimental Drug May Help Boys With Muscular Dystrophy

One big question: would the limited data Sarepta has so far collected from a very small clinical trial of its drug eteplirsen, a treatment for Duchenne muscular dystrophy that is caused by a very specific type of mutation, be enough to warrant filing with the Food and Drug Administration and perhaps even gain approval?

FORBES: A Key Exchange On Sarepta Therapeutics' Promising Muscular Dystrophy Drug

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