家族性小脑共济失调及与4号染色体倒位的可能共分离。 - Suppr

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超能文献

Familial cerebellar ataxia and possible cosegregation with an inversion in chromosome 4.

作者信息

Young I D, Duckett D P

出版信息

J Neurol Neurosurg Psychiatry. 1990 May;53(5):441-2. doi: 10.1136/jnnp.53.5.441-a.

DOI:10.1136/jnnp.53.5.441-a

PMID:2351981

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC488072/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f977/488072/0d8c967b9b17/jnnpsyc00515-0077-a.jpg

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本文引用的文献

Genetic aspects of autosomal dominant late onset cerebellar ataxia.常染色体显性迟发性小脑共济失调的遗传学方面

J Med Genet. 1981 Dec;18(6):436-41. doi: 10.1136/jmg.18.6.436.

The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.迟发性常染色体显性遗传性小脑共济失调的临床特征与分类。对11个家族的研究，包括“沃尔沃思的德鲁家族”的后代。

Brain. 1982 Mar;105(Pt 1):1-28. doi: 10.1093/brain/105.1.1.

Mapping of mutation causing Friedreich's ataxia to human chromosome 9.导致弗里德赖希共济失调的突变基因定位到人类9号染色体。

Nature. 1988 Jul 21;334(6179):248-50. doi: 10.1038/334248a0.

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