家族性中枢性尿崩症的分子遗传学 - Suppr

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超能文献

Molecular genetics of familial central diabetes insipidus.

作者信息

Miller W L

出版信息

J Clin Endocrinol Metab. 1993 Sep;77(3):592-5. doi: 10.1210/jcem.77.3.8370680.

DOI:10.1210/jcem.77.3.8370680

PMID:8370680

Abstract

摘要

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Molecular genetics of familial central diabetes insipidus.家族性中枢性尿崩症的分子遗传学

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Identification of mutations of the arginine vasopressin-neurophysin II gene in two kindreds with familial central diabetes insipidus.两个家族性中枢性尿崩症家系中精氨酸加压素-神经垂体素II基因突变的鉴定

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A novel splice site mutation of the arginine vasopressin-neurophysin II gene identified in a kindred with autosomal dominant familial neurohypophyseal diabetes insipidus.在一个常染色体显性遗传的家族性垂体性尿崩症家系中鉴定出精氨酸加压素-神经垂体素II基因的一种新型剪接位点突变。

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Molecular pathology of familial central diabetes insipidus.

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A new type of familial central diabetes insipidus caused by a single base substitution in the neurophysin II coding region of the vasopressin gene.一种由血管加压素基因神经垂体素II编码区的单个碱基替换引起的新型家族性中枢性尿崩症。

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Molecular biology of diabetes insipidus.尿崩症的分子生物学

Annu Rev Med. 1995;46:331-43. doi: 10.1146/annurev.med.46.1.331.

Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus.与家族性中枢性尿崩症相关的神经垂体素-II编码区的两个新突变。

J Clin Endocrinol Metab. 1995 Apr;80(4):1352-6. doi: 10.1210/jcem.80.4.7714110.

A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus.与家族性中枢性尿崩症相关的神经垂体素II编码区的单碱基替换。

J Clin Invest. 1991 Feb;87(2):725-8. doi: 10.1172/JCI115052.

Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus.

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Heterogeneity in clinical manifestation of autosomal dominant neurohypophyseal diabetes insipidus caused by a mutation encoding Ala-1-->Val in the signal peptide of the arginine vasopressin/neurophysin II/copeptin precursor.由精氨酸加压素/神经垂体素II/ copeptin前体信号肽中编码Ala-1→Val的突变引起的常染色体显性遗传性神经垂体性尿崩症临床表现的异质性。

J Clin Endocrinol Metab. 1997 Jan;82(1):51-6. doi: 10.1210/jcem.82.1.3660.

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