Novel human pathological mutations. Gene symbol: NF1. Disease: Neurofibromatosis 1.

作者信息

Alabdulkareem Ibrahim, Al Balwi Mohammed

机构信息

Molecular Biology, NGHA, P O Box 22490, (2216), 11426, Riyadh, Saudi Arabia.

出版信息

Hum Genet. 2010 Jan;127(1):114.

PMID:20108390

Abstract

摘要

相似文献

Novel human pathological mutations. Gene symbol: NF1. Disease: Neurofibromatosis 1.

Hum Genet. 2010 Jan;127(1):114.

Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.

Hum Mutat. 2002 Jul;20(1):74-5. doi: 10.1002/humu.9039.

NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing.

Hum Mutat. 2006 Nov;27(11):1104-14. doi: 10.1002/humu.20396.

A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient.

J Hum Genet. 2000;45(2):84-5. doi: 10.1007/s100380050016.

Two novel mutations of the NF1 gene in Chinese Han families with type 1 neurofibromatosis.

J Dermatol Sci. 2005 Aug;39(2):125-7. doi: 10.1016/j.jdermsci.2005.05.003.

Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I.

Dis Model Mech. 2016 Jul 1;9(7):759-67. doi: 10.1242/dmm.025783. Epub 2016 Jun 2.

Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers.

Hum Mutat. 2003 Dec;22(6):423-7. doi: 10.1002/humu.10272.

Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.

Hum Mutat. 2004 Jun;23(6):629. doi: 10.1002/humu.9245.

Novel human pathological mutations. Gene symbol: NF1. Disease: neurofibromatosis 1.

Hum Genet. 2007 Jun;121(5):647.

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

J Med Genet. 2009 Jul;46(7):425-30. doi: 10.1136/jmg.2008.065243. Epub 2009 Apr 14.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验