Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism-Reference-Cited by-同舟云学术

Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism

Published:2017-02-21 Issue:5 Volume:102 Page:1726-1733
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Li Dong,Streeten Elizabeth A.,Chan Alice,Lwin Wint,Tian Lifeng,Pellegrino da Silva Renata,Kim Cecilia E.,Anderson Mark S.,Hakonarson Hakon,Levine Michael A.

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/102/5/1726/16630119/jc.2016-3836.pdf

Reference42 articles.

1. Presentation of hypoparathyroidism: etiologies and clinical features;J Clin Endocrinol Metab,2016

2. Epidemiology and diagnosis of hypoparathyroidism;J Clin Endocrinol Metab,2016

3. Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons;Medicine (Baltimore),1986

4. Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism;J Clin Invest,1990

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