Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene
about
Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features.A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.Mammalian diseases of phosphatidylinositol transfer proteins and their homologs.NF1 loss induces senescence during human melanocyte differentiation in an iPSC-based model.NF1 tumor suppressor mRNA is targeted to the cell-cell contact zone in Ca(2+)-induced keratinocyte differentiation.
P2860
Q33680557-3FFCED18-0313-4AE9-85C5-AC47FAAFCE15Q33680835-1B7D297E-E298-4BE8-AEA2-E7888A3417E4Q35431275-66EE23F4-5302-4F6B-B7C5-6EE12EB65B22Q42668919-CF3AC38B-ABA3-4413-9CA7-D8DF9532A113Q42736093-5FA5ECAF-C6A4-4FB2-AE4E-7513556464F7Q49150464-C68E0031-CE0D-4BA7-A050-7D25A5EE7D9FQ52545572-4B5EFE8B-76B9-4CE5-97DD-5C51EB209062
P2860
Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene
description
1995 nî lūn-bûn
@nan
1995 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene
@ast
Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene
@en
type
label
Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene
@ast
Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene
@en
prefLabel
Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene
@ast
Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene
@en
P2093
P2860
P356
P1476
Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene
@en
P2093
Upadhyaya M
P2860
P304
P356
10.1136/JMG.32.9.706
P407
P577
1995-09-01T00:00:00Z