21号染色体单体相关小头畸形和宫内生长迟缓的基因座可能被定位到21q22.2的一个1.2兆碱基的片段上。 - Suppr

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超能文献

Possible narrowed assignment of the loci of monosomy 21-associated microcephaly and intrauterine growth retardation to a 1.2-Mb segment at 21q22.2.

作者信息

Matsumoto N, Ohashi H, Tsukahara M, Kim K C, Soeda E, Niikawa N

出版信息

Am J Hum Genet. 1997 Apr;60(4):997-9.

PMID:9106547

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1712454/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eecc/1712454/9fb8d4ef3208/ajhg00004-0252-a.jpg

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An integrated map with cosmid/PAC contigs of a 4-Mb Down syndrome critical region.一幅含有4兆碱基唐氏综合征关键区域黏粒/细菌人工染色体重叠群的整合图谱。

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minibrain: a new protein kinase family involved in postembryonic neurogenesis in Drosophila.微型脑：一个参与果蝇胚胎后神经发生的新蛋白激酶家族。

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The Drosophila single-minded gene encodes a helix-loop-helix protein that acts as a master regulator of CNS midline development.果蝇单 minded 基因编码一种螺旋-环-螺旋蛋白，该蛋白作为中枢神经系统中线发育的主要调节因子发挥作用。

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No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21.21号染色体“镜像”重复中21q22.3远端单体性对唐氏综合征表型无显著影响。

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