佝偻病和骨软化症的遗传形式。 - Suppr

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超能文献

Inherited forms of rickets and osteomalacia.

作者信息

Thakker R V, O'Riordan J L

出版信息

Baillieres Clin Endocrinol Metab. 1988 Feb;2(1):157-91. doi: 10.1016/s0950-351x(88)80012-0.

DOI:10.1016/s0950-351x(88)80012-0

PMID:2900631

Abstract

摘要

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Inherited forms of rickets and osteomalacia.佝偻病和骨软化症的遗传形式。

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引用本文的文献

[Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases].X连锁低磷血症性佝偻病患者的新型PHEX基因突变：2例分析

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Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant.基因检测确诊一名7个月大婴儿患X连锁低磷性佝偻病

J Investig Med High Impact Case Rep. 2015 Aug 3;3(3):2324709615598167. doi: 10.1177/2324709615598167. eCollection 2015 Jul-Sep.

A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets.日本X连锁低磷性佝偻病患者中的一种新型PHEX突变

Case Rep Genet. 2015;2015:301264. doi: 10.1155/2015/301264. Epub 2015 Mar 15.

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PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.对118个家系进行的PHEX分析揭示了低磷性佝偻病的新遗传线索。

Hum Genet. 2009 May;125(4):401-11. doi: 10.1007/s00439-009-0631-z. Epub 2009 Feb 15.

Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.通过连锁研究将导致X连锁隐性肾结石症的基因定位于Xp11.22。

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