Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen
about
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypesCompound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentitionMutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosaCharacterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.Experimental models of epidermolysis bullosa acquisita.Remodeling of the dermal-epidermal junction in bilayered skin constructs after silencing the expression of the p.R2622Q and p.G2623C collagen VII mutants.
P2860
Q24648149-818F3A44-B525-4F90-9D72-31C327E9724FQ24675846-F4093B54-19AF-479B-8C6F-31C7A5969379Q28284115-1316D981-301F-4DA4-9E3D-F7DC5600A0BFQ35249597-C4113CC0-9B32-4C09-9AB9-33B87EB0FFB5Q35881816-704E57E7-4C1F-4860-BFE4-54023F4169A7Q35881857-85558669-792A-4FBF-ACDD-7C9D662B0CCFQ36828943-87C1C279-561F-416E-AFB6-F34D133CBB59Q43042273-625A0C20-0820-4134-A5C2-B06A4864EACD
P2860
Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen
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
Pretibial epidermolysis bullos ...... al domain of type VII collagen
@ast
Pretibial epidermolysis bullos ...... al domain of type VII collagen
@en
Pretibial epidermolysis bullos ...... al domain of type VII collagen
@nl
type
label
Pretibial epidermolysis bullos ...... al domain of type VII collagen
@ast
Pretibial epidermolysis bullos ...... al domain of type VII collagen
@en
Pretibial epidermolysis bullos ...... al domain of type VII collagen
@nl
prefLabel
Pretibial epidermolysis bullos ...... al domain of type VII collagen
@ast
Pretibial epidermolysis bullos ...... al domain of type VII collagen
@en
Pretibial epidermolysis bullos ...... al domain of type VII collagen
@nl
P2093
P356
P1476
Pretibial epidermolysis bullos ...... al domain of type VII collagen
@en
P2093
P304
P356
10.1093/HMG/4.9.1579
P407
P50
P577
1995-09-01T00:00:00Z