Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to defi
about
Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemiaA recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tardaTwo alpha subunit donor splice site mutations cause human trifunctional protein deficiencyAnalysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-a
P2860
Q22009971-BF556EF1-70F2-4138-86AE-F80689407ABAQ24322489-10A6B22B-7C6F-4048-AEE1-967D672C6897Q33595289-0AFF7262-FFBF-4AED-8B69-4195A2237244Q33678961-E6E3B715-A5D3-4947-A1A7-61992C331BEFQ34020815-AD3A4967-EC06-4D1C-A442-52105DB55856Q34216105-0BDDAE25-48F4-42FF-BC1A-A39C58B7504EQ41771617-2E8F20C6-B9CB-4038-A1B9-57A28A8E1215
P2860
Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to defi
description
1991 nî lūn-bûn
@nan
1991 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2
@nl
Heterozygous mutation in the G ...... A sequencing necessary to defi
@ast
Heterozygous mutation in the G ...... A sequencing necessary to defi
@en
type
label
Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2
@nl
Heterozygous mutation in the G ...... A sequencing necessary to defi
@ast
Heterozygous mutation in the G ...... A sequencing necessary to defi
@en
prefLabel
Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2
@nl
Heterozygous mutation in the G ...... A sequencing necessary to defi
@ast
Heterozygous mutation in the G ...... A sequencing necessary to defi
@en
P2093
P1476
Heterozygous mutation in the G ...... A sequencing necessary to defi
@en
P2093
P304
12035-12040
P407
P577
1991-06-01T00:00:00Z