伴有低钙血症性高钙血症和粒细胞功能缺陷的家族性间质性肺病中CASR基因的一种新的错义突变。 - Suppr | 超能文献

A new missense mutation in the CASR gene in familial interstitial lung disease with hypocalciuric hypercalcemia and defective granulocyte function.

作者信息

Demedts Maurits, Lissens Willy, Wuyts Wim, Matthijs Gert, Thomeer Michiel, Bouillon Roger

出版信息

Am J Respir Crit Care Med. 2008 Mar 1;177(5):558-9. doi: 10.1164/ajrccm.177.5.558.

DOI:10.1164/ajrccm.177.5.558

Abstract

摘要

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A new missense mutation in the CASR gene in familial interstitial lung disease with hypocalciuric hypercalcemia and defective granulocyte function.伴有低钙血症性高钙血症和粒细胞功能缺陷的家族性间质性肺病中CASR基因的一种新的错义突变。

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