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Darier's disease is an uncommon autosomal dominant genodermatosis. About 10% Darier's diseases present a mosaic form with linear distribution following Blaschko's lines. This unusual forms were named localized, linear, unilateral, segmental or zosteriform Darier's disease.

Darier's disease是一种罕见之遗传性皮肤病,大约百分之十患者呈现基因镶嵌形式,其皮肤病灶会沿著布拉许口氏线分布,这些不寻常之形式特曰局限型,线型,单侧型,分节型或带状型Darier's disease。

After years of research, the scientists' discovery culminated in the cure of a rare genetic disease.

经过多年的研究,这些科学家的发现终於得到了治疗这个罕见遗传性疾病的方法。

Our finding will contribute to understanding the molecular basis in DEB, offering the method for prenatal diagnosis and a research model of other hereditary dermatoses.

我们的发现有助于理解DEB的分子基础,为该家系基因产前诊断打下了良好的基础,并且为研究其它遗传性皮肤病提供了一种模式。

Dysregulation of the protein kinase A system, caused by mutation of the protein kinase A regulatory subunit gene PRKAR1A, causes the inherited tumor syndrome Carney complex, which includes cardiac myxomas as one of its cardinal features.

蛋白激酶A调节亚基因PRKAR1A的变化引起蛋白激酶A系统失调,导致了遗传性卡尼复合肿瘤综合症,其中包括了心脏粘液瘤作为它的一个主要特征。

BACKGROUND: Protein kinase A signaling has long been known to play an important role in cardiac function. Dysregulation of the protein kinase A system, caused by mutation of the protein kinase A regulatory subunit gene PRKAR1A, causes the inherited tumor syndrome Carney complex, which includes cardiac myxomas as one of its cardinal features.

背景:长期以来,蛋白激酶A信号途径被认为在心功能中起着重要作用,蛋白激酶A调节亚单位基因PRKAR1A的突变导致蛋白激酶A系统失调,引起遗传性肿瘤综合征-Carney合成,其中心脏粘液瘤作为其主要特征。

Background— Protein kinase A signaling has long been known to play an important role in cardiac function. Dysregulation of the protein kinase A system, caused by mutation of the protein kinase A regulatory subunit gene PRKAR1A, causes the inherited tumor syndrome Carney complex, which includes cardiac myxomas as one of its cardinal features. Mouse models of this genetic defect have been unsatisfactory because homozygote null animals die early in development and heterozygotes do not exhibit a cardiac phenotype.

背景——蛋白激酶A信号传导在心功能中发挥了重要作用早已为人们所知蛋白激酶A调节亚基因PRKAR1A的变化引起蛋白激酶A系统失调,导致了遗传性卡尼复合肿瘤综合症,其中包括的心脏粘液瘤作为它的一个主要特征此种遗传缺陷的小鼠模式仍然不能令人满意,因其纯合体空白动物在发展中早期死亡,而杂合体不能显示心脏表型

A genetic disease characterized by the formation of neurofibromas,sometimes accompanied by physical deformation and a predisposition to brain tumors and various forms of cancer.

神经纤维瘤病遗传性疾病,其特点为具有多个神经纤维瘤,常伴随有身体畸变,易导致脑瘤及各种癌症到中国译典经典版本中查找关于predisposition的最新解释和例句。。。。

A genetic disease characterized by the formation of neurofibromas,sometimes accompanied by physical deformation and a predisposition to brain tumor s and various forms of cancer.

神经纤维瘤病遗传性疾病,其特点为具有多个神经纤维瘤,常伴随有身体畸变,易导致脑瘤及各种癌症

A genetic disease characterized by the formation of neurofibromas, sometimes accompanied by physical deformation and a predisposition to brain tumors and various forms of cancer.

神经纤维瘤病遗传性疾病,其特点为具有多个神经纤维瘤,常伴随有身体畸变,易导致脑瘤及各种癌症

With the aim of elucidating features which may help with differential diagnosis, this study reports the incidence and pathologic features of benign ovarian alterations, benign ovarian tumors, and occult primary and metastatic malignancies in prophylactic oophorectomies from 108 women with a BRCA mutation and from 35 women with other strong risk factors for hereditary breast/ovarian carcinoma.

为了阐明鉴别诊断的要点,本研究报道了卵巢良性病变、良性肿瘤和隐匿性原发性及转移性恶性病变的发生率和病理特征,所选病例都做了预防性卵巢切除术,包括108例伴有BRCA基因突变的女性和35例伴有其他遗传性乳腺/卵巢癌高危因素的女性。

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Breath, muscle contraction of the buttocks; arch body, as far as possible to hold his head, right leg straight towards the ceiling (peg-leg knee in order to avoid muscle tension).

呼气,收缩臀部肌肉;拱起身体,尽量抬起头来,右腿伸直朝向天花板(膝微屈,以避免肌肉紧张)。

The cost of moving grain food products was unchanged from May, but year over year are up 8%.

粮食产品的运输费用与5月份相比没有变化,但却比去年同期高8%。

However, to get a true quote, you will need to provide detailed personal and financial information.

然而,要让一个真正的引用,你需要提供详细的个人和财务信息。