Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children-Reference-Cited by-同舟云学术

Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children

Published:2015-10-13 Issue:5 Volume:43 Page:537-542
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:J Dermatol

Author:

Yao Ruen¹,Wang Lili²,Yu Yongguo²,Wang Jian¹,Shen Yiping¹³⁴

Affiliation:

1. Shanghai Children's Medical Center; Shanghai Jiaotong University School of Medicine; Shanghai China

2. Xinhua Hospital; Institute for Pediatric Research; Shanghai China

3. Boston Children's Hospital; Boston Massachusetts USA

4. Claritas Genomics; Cambridge Massachusetts USA

Funder

“Eastern Scholar” Fund

National Natural Science Foundation of China

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/1346-8138.13169/fullpdf

Reference14 articles.

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2. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1;Ars;Hum Mol Genet,2000

3. Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b;Toliat;Electrophoresis,2000

4. A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma;Kebudi;Pediatr Blood Cancer,2008

5. Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice-site disruption;Wimmer;Hum Mutat,2007

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