A Novel Homozygous Ala529ValLMNAMutation in Turkish Patients with Mandibuloacral Dysplasia-Reference-Cited by-同舟云学术

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A Novel Homozygous Ala529ValLMNAMutation in Turkish Patients with Mandibuloacral Dysplasia

Published:2005-09 Issue:9 Volume:90 Page:5259-5264
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:The Journal of Clinical Endocrinology & Metabolism

Author:

Garg Abhimanyu,Cogulu Ozgur,Ozkinay Ferda,Onay Huseyin,Agarwal Anil K.

Publisher

The Endocrine Society

Subject

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

Cited by 58 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review;The Journal of Clinical Endocrinology & Metabolism;2023-10-16

2. Nucleoplasmic lamin C rapidly accumulates at sites of nuclear envelope rupture with BAF and cGAS;Journal of Cell Biology;2022-10-27

3. The LMNA p.R541C mutation causes dilated cardiomyopathy in human and mice;International Journal of Cardiology;2022-09

4. Mechanisms of A-Type Lamin Targeting to Nuclear Ruptures Are Disrupted in LMNA- and BANF1-Associated Progerias;Cells;2022-03-02

5. Mechanisms of A-type lamin targeting to nuclear ruptures are disrupted in LMNA- and BANF1-associated progerias;2022-01-15

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