SLC34A2 gene compound heterozygous mutation identification in a patient with pulmonary alveolar microlithiasis and computational 3D protein structure prediction-Reference-Cited by-同舟云学术

SLC34A2 gene compound heterozygous mutation identification in a patient with pulmonary alveolar microlithiasis and computational 3D protein structure prediction

Published:2014-12 Issue: Volume:2 Page:557-564
ISSN:2214-5400
Container-title:Meta Gene
language:en
Short-container-title:Meta Gene

Author:

Wang Huiying,Yin Xinzhen,Wu Dingwen,Jiang Xinguo

Funder

Zhejiang Provincial Science and Technology

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference20 articles.

1. Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis;Corut;Am. J. Hum. Genet.,2006

2. A frame-shift mutation in the SLC34A2 gene in three patients with pulmonary alveolar microlithiasis in an inbred family;Dogan;Intern. Med.,2010

3. Pulmonary alveolar microlithiasis;Hagiwara,2010

4. Isolation and localization of type IIb Na/Pi cotransporter in the developing rat lung;Hashimoto;Am. J. Pathol.,2000

5. Mutations in the SLC34A2 gene are associated with pulmonary alveolar microlithiasis;Huqun;Am. J. Respir. Crit. Care Med.,2007

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1. A novel compound heterozygous mutation in the SLC34A2 gene causes pulmonary alveolar microlithiasis;QJM: An International Journal of Medicine;2023-12-09

2. New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review;Orphanet Journal of Rare Diseases;2023-05-31

3. Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis;Human Genomics;2022-04-20

4. Phosphate Transport in Epithelial and Nonepithelial Tissue;Physiological Reviews;2021-01-01

5. Pulmonary alveolar microlithiasis;European Respiratory Review;2020-11-27