A Novel Frameshift Mutation in Neurofibromin 1 Gene in a Chinese Family with Neurofibromatosis Type 1

A Novel Frameshift Mutation in Neurofibromin 1 Gene in a Chinese Family with Neurofibromatosis Type 1

To the Editor： Neurofibromatosis type 1 （NF1） is a common autosomal dominant genetic neurocutaneous disorder mainly characterized by cafe-au-lait macules （CALMs）, neurofibromas,

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Veröffentlicht in:Chinese medical journal 2017-03, Vol.130 (5), p.629-630
Hauptverfasser: Dong, Ying-Ying, Zhang, Yan-Hong, Li, Hong-Wen, Chen, Lu-Zhu, Wang, Ting-Mei, Hu, Wei, Hu, Man, She, Qiu-Yun, Liu, Dong-Xian, Deng, Yun-Hua
Format: Artikel
Sprache:eng
Schlagworte:
Amino acids
Correspondence
Deoxyribonucleic acid
Dermatology
DNA
Genetic disorders
Mutation
Neurological disorders
Proteins
Science
Tumors
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Beschreibung
Zusammenfassung:To the Editor： Neurofibromatosis type 1 （NF1） is a common autosomal dominant genetic neurocutaneous disorder mainly characterized by cafe-au-lait macules （CALMs）, neurofibromas,
ISSN:0366-6999
2542-5641
DOI:10.4103/0366-6999.200538