Heritable mutations of ALAS2 gene are responsible for the human X-linked sideroblastic anemia.
ALAS2基因的可遗传突变是人类X连锁铁粒幼细胞性贫血的原因。
The disease is autosomal-recessive and linked to the X-chromosome, so that men whose mothers are carriers of the gene manifest the disease.
该病属常染色体隐性遗传，与X-染色体关联，所以，母亲是基因携带者的男性表现为发病。
The methylation of histone H3-K27 was proved to be linked to several silencing phenomena including homeotic-gene silencing, X inactivation and genomic imprinting.
组蛋白H3第27位赖氨酸的甲基化与同源盒基因沉默、X染色体失活、基因印记等基因沉默现象有关；
Objective to detect mutations of the RP2 gene in two Chinese families with X linked retinitis pigmentosa (XLRP).
目的检测引起2个家系产生X连锁视网膜色素变性的RP2基因突变。
Objective To explore the relationship between X - linked spondyloepiphyseal dysplasia tarda (SEDL) gene escaping X chromosome inactivation( XCI) and SEDL phenotype.
目的探讨X-连锁迟发性脊椎骨骺发育不良（SEDL）基因逃避X染色体失活（XCI）及与临床表型的关系。
The absence of ALAS2 leads to maturation arrest of primitive erythroid cells. Heritable mutations of ALAS2 gene are responsible for the human X-linked sideroblastic anemia (XLSA).
ALAS2的缺失能导致红细胞发育的停滞，ALAS2基因的遗传性突变能引起X-连锁的成高铁红细胞贫血（XLSA）。
Objective To analyze the ABCD1 gene mutations in 5 cases of X-linked adrenoleukodystrophy (X-ALD) patients and 2 cases of their mothers.
目的对5例x -连锁肾上腺脑白质营养不良(X -ALD)患儿及其中2例的母亲进行ABCD 1基因突变分析。
Objective To identity the ABCD1 gene mutation in a Chinese family with X-linked adrenoleukodystrophy (ALD).
目的鉴定并分析1个新的肾上腺脑白质营养不良家系的基因突变类型和位点。
Objective To identity the ABCD1 gene mutation in a Chinese family with X-linked adrenoleukodystrophy (ALD).
目的鉴定并分析1个新的肾上腺脑白质营养不良家系的基因突变类型和位点。
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