X连锁肾上腺发育不全和甘油激酶基因座的拟定位 - Suppr

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Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes.

作者信息

Hammond J, Howard N J, Brookwell R, Purvis-Smith S, Wilcken B, Hoogenraad N

出版信息

Lancet. 1985 Jan 5;1(8419):54. doi: 10.1016/s0140-6736(85)91009-8.

DOI:10.1016/s0140-6736(85)91009-8

PMID:2856983

Abstract

摘要

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Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes.X连锁肾上腺发育不全和甘油激酶基因座的拟定位

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Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.

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Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome.人类X染色体短臂Xp21区域内甘油激酶缺乏症和先天性肾上腺发育不全的精细定位。

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DXS28 (C7) maps centromeric to DXS68 (L1-4) and DXS67 (B24) by deletion analysis.

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Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.复杂型甘油激酶缺乏症：5例日本患者的分子遗传学、细胞遗传学及临床研究

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引用本文的文献

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Isolated and contiguous glycerol kinase gene disorders: a review.孤立性和连续性甘油激酶基因疾病：综述

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Recently recognized chromosomal defects of clinical importance.近期发现的具有临床重要性的染色体缺陷。

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Inherited deletion of subband Xp21.13 in a male with Duchenne muscular dystrophy.一名患有杜氏肌营养不良症的男性患者中Xp21.13子带的遗传性缺失。

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Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia.伴有甘油激酶缺乏和先天性肾上腺发育不全的Xp21.2家族性缺失。

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Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.先天性肾上腺发育不全、肌病与甘油激酶缺乏症：缺失的分子遗传学证据

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Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases.婴儿型甘油激酶缺乏症——一种需要及时识别的病症。两例病例的临床、生化及形态学表现

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Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.用于杜兴氏肌营养不良基因座的互补DNA探针显示，一名患有营养不良性肌病、甘油激酶缺乏症和先天性肾上腺发育不全的患者存在以前无法检测到的缺失。

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Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.

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