Homozygous frame-shift mutation in a Chinese family with neurofibromatosis type 1

J Dermatol. 2018 May;45(5):e134-e135. doi: 10.1111/1346-8138.14165. Epub 2017 Nov 30.

Authors

Jian-Kang Yang¹, Wen-Juan Wu², Li He²

Affiliations

¹ Department of Biochemistry and Molecular Biology, Dali University, Dali, China.
² Department of Dermatology, First Affiliated Hospital of Kunming Medical University, Kunming, China.

PMID: 29193275
DOI: 10.1111/1346-8138.14165

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Aged
Asian People / genetics
Female
Frameshift Mutation
Genetic Testing
Homozygote
Humans
Male
Neurofibromatosis 1 / diagnosis*
Neurofibromatosis 1 / genetics
Neurofibromin 1 / genetics*
Pedigree

Substances

NF1 protein, human
Neurofibromin 1