about
Identification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1Molecular genetics of neurofibromatosis type 1 (NF1)Increased noise as an effect of haploinsufficiency of the tumor-suppressor gene neurofibromatosis type 1 in vitro.Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy.Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism.Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.Neurofibromatosis type 1: pathology, clinical features and molecular genetics.On the lysosomal degradation of neurofibromin and its phosphorylation in cultured melanocytes.Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.Skewed allele-specific expression of the NF1 gene in normal subjects: a possible mechanism for phenotypic variability in neurofibromatosis type 1.Faster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with the R403Q MYH7 mutation
P2860
Q24320046-385B2987-44EF-435A-9C6E-9A76CCFBD8F4Q24518449-EEE80C7E-D763-4278-A6A5-8B6B06E51A23Q34161443-986BE653-898B-4AFC-B281-9D2B6B5F8549Q35587444-F9DF6CAD-0254-40BF-A5B7-4947D2BEFB14Q35643957-970B81B8-CCD9-4F45-9AA2-1EEDE8B4896EQ35882400-69EF0881-405D-4A51-BC1A-F222552B0B85Q40479884-86CD3AB7-A96E-4628-92CC-CCC52C3E4F0CQ41922921-4D34D8E2-06C8-4219-9635-0E02FD4467DDQ42121523-4474639D-050D-4A4A-9538-5B6CBF3DBC50Q51848064-E24D6D02-E849-4135-ABCC-95D00DF3A872Q58087435-6B484D2A-5AA7-4F0C-A470-45B6A762D1FB
P2860
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年学术文章
@wuu
1994年学术文章
@zh-cn
1994年学术文章
@zh-hans
1994年学术文章
@zh-my
1994年学术文章
@zh-sg
1994年學術文章
@yue
1994年學術文章
@zh
1994年學術文章
@zh-hant
name
Unequal expression of NF1 alleles.
@en
Unequal expression of NF1 alleles.
@nl
type
label
Unequal expression of NF1 alleles.
@en
Unequal expression of NF1 alleles.
@nl
prefLabel
Unequal expression of NF1 alleles.
@en
Unequal expression of NF1 alleles.
@nl
P2093
P2860
P356
P1433
P1476
Unequal expression of NF1 alleles.
@en
P2093
P2860
P2888
P356
10.1038/NG0494-331
P407
P577
1994-04-01T00:00:00Z