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Turkish Variant Late Infantile NCL

机译:土耳其体文晚期婴儿ncl

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摘要

As a result of projects aiming to identify and characterise the genes responsible for classic and variants of late infantile NCL it became apparent that all families of Turkish origin showed recombination at both CLN2 and CLN6. These families are thought to represent a distinct genetic locus which has been designated CLN7. A number of children with late infantile onset NCL are known both in Turkey and in Turkish families now living outside of Turkey, but the exact incidence is unknown.
机译:由于旨在识别和表征负责晚期婴儿NCL的经典和变种的基因的项目,因此表明,所有土耳其原子的家庭都会在CLN2和CLN6中显示重组。这些家庭被认为代表了已被指定为CLN7的独特遗传基因座。在土耳其和土耳其家庭中均以土耳其和土耳其家庭在土耳其以外生活,但确切的发病率未知一些儿童。

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