A novel mutation of the NF1 gene in a Chinese family with neurofibromatosis type 1.
Year: 2022
Type: article
Study design: Case Report
Abstract: BACKGROUND: ) gene are associated with clinical manifestations of neurofibromatosis type 1 (NF1). OBJECTIVE: variants and disease phenotype. METHODS: Peripheral blood samples were collected from a patient and her relatives and genomic DNA was extracted for next-generation sequencing (NGS) to detect potential variants; the results were validated by Sanger sequencing. RESULTS: may underlie NF1 in this family. CONCLUSIONS: gene, which could aid genetic counseling and prenatal diagnosis.
Source: PubMed Central
Authors: Qi He, Jingjing Jiang, Jiao Yang, Junjie Zeng, Huan Zhang, Zhengzhong Zhang
Institution: Affiliated Hospital of North Sichuan Medical College
Language: English
Subfield: Clinical Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W4291283283