Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis-Reference-Cited by-同舟云学术

Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis

Published:2018-10-05 Issue:1 Volume:25 Page:
ISSN:1423-0127
Container-title:Journal of Biomedical Science
language:en
Short-container-title:J Biomed Sci

Author:

Wu-Chou Yah-Huei,Hung Tzu-Chao,Lin Yin-Ting,Cheng Hsing-Wen,Lin Ju-Li,Lin Chih-Hung,Yu Chung-Chih,Chen Kuo-Ting,Yeh Tu-Hsueh,Chen Yu-Ray

Funder

National Science Council

Chang Gung Medical Foundation

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Biochemistry (medical),Cell Biology,Clinical Biochemistry,Molecular Biology,General Medicine,Endocrinology, Diabetes and Metabolism

Link

http://link.springer.com/content/pdf/10.1186/s12929-018-0474-9.pdf

Reference51 articles.

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2. Boyd KP, Korf BR, Theos A. Neurofibromatosis type 1. J Am Acad Dermatol. 2009;61:1–14.

3. Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL. Neurofibromatosis type 1 revisited. Pediatrics. 2009;123:124–33.

4. Ferner RE. The neurofibromatoses. Pract Neurol. 2010;10:82–93.

5. DeBella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics. 2000;105:608–14.

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