Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis-Reference-Cited by-同舟云学术

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Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis

Published:2017-11-01 Issue:6 Volume:37 Page:540-543
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Yoo In Young¹,Song Ju-Sun¹,Ki Chang-Seok¹,Kim Jong-Won¹,Cha Hoon-Suk²,Min Yong-Ki²

Affiliation:

1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

2. Division of Endocrinology and Metabolism, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry, medical,Clinical Biochemistry,General Medicine

Link

https://synapse.koreamed.org/pdf/10.3343/alm.2017.37.6.540

Reference15 articles.

1. Osteopoikilosis: report of a familial case and review of the literature

2. Epidemiological, clinical and radiological aspects of osteopoikilosis

3. Melorheostosis in a family with autosomal dominant osteopoikilosis: Report of a third family

4. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Cited by 1 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. Erratum: Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis;Annals of Laboratory Medicine;2019-03-31

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