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Journals
Balkan Journal of Medical Genetics
Volume 21 (2018): Issue 2 (December 2018)
Open Access
Next generation sequencing identified a novel multi exon deletion of the
NF1
gene in a Chinese pedigree with neurofibromatosis type 1
J Yang
J Yang
,
J-X An
J-X An
,
X-L Liu
X-L Liu
,
Z-Q Wang
Z-Q Wang
,
G-M Xie
G-M Xie
,
X-L Yang
X-L Yang
,
S-J Xu
S-J Xu
,
F Feng
F Feng
and
Y Ni
Y Ni
| Dec 31, 2018
Balkan Journal of Medical Genetics
Volume 21 (2018): Issue 2 (December 2018)
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Article Category:
Case Report
Published Online:
Dec 31, 2018
Page range:
45 - 48
DOI:
https://doi.org/10.2478/bjmg-2018-0019
Keywords
Café-au-lai-spots
,
Multi-exon deletion
,
Novel mutation
,
Neurofibromas
,
Neurofibromatosis type 1 (NF1)
,
Next generation sequencing (NGS)
© 2018 Yang J, An J-X, Liu X-L, Wang Z-Q, Xie G-M, Yang X-L, Xu S-J, Feng F, Ni Y, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
J Yang
Gansu Provincial Maternity and Child-Care Hospital, LanZhou, Gansu Province, People’s Republic of China
Wuwei City, China
J-X An
Gansu Provincial Maternity and Child-Care Hospital, LanZhou, Gansu Province, People’s Republic of China
Wuwei City, China
X-L Liu
Gansu Provincial Maternity and Child-Care Hospital, LanZhou, Gansu Province, People’s Republic of China
Wuwei City, China
Z-Q Wang
Gansu Provincial Maternity and Child-Care Hospital, LanZhou, Gansu Province, People’s Republic of China
Wuwei City, China
G-M Xie
Gansu Provincial Maternity and Child-Care Hospital, LanZhou, Gansu Province, People’s Republic of China
Wuwei City, China
X-L Yang
The third people’s hospital of Liangzhou District, Wuwei City, Gansu Province, People’s Republic of China
Wuwei City, China
S-J Xu
Gansu Provincial Maternity and Child-Care Hospital, LanZhou, Gansu Province, People’s Republic of China
Wuwei City, China
F Feng
Gansu Provincial Maternity and Child-Care Hospital, LanZhou, Gansu Province, People’s Republic of China
Wuwei City, China
Y Ni
Gansu Provincial Maternity and Child-Care Hospital, LanZhou, Gansu Province, People’s Republic of China
Wuwei City, China