Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa
about
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypesTwo novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosaA COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.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.Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1)Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies.Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa.A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.Compound Heterozygosity of Dominant and Recessive COL7A Alleles in a Severely Affected Patient with a Family History of Dystrophic Epidermolysis Bullosa: Clinical Findings, Genetic Testing, and Treatment Implications.Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in theCOL7Agene
P2860
Q24648149-48BAED96-7EFB-40E4-BC42-105B62618A1AQ28485440-C2F6B2D3-3BA6-4935-B641-7810D63EB49BQ34310389-66ABDD1D-867F-491B-A2DA-738F617C4479Q35249597-8CF46C54-CDB3-46E5-A08D-E9E1744D78FDQ35881857-CF1027B4-C24B-4CFB-8EE3-43CD5EEAC8E6Q35881950-8CCB47FF-EE90-4516-91A3-4FACB9189EE6Q36437677-91517592-6B5D-4D8D-86DA-C9BDC4698D5FQ38180485-1DE6475B-B5B5-4990-8130-D542089AC09BQ47833722-42802F4C-7522-4316-B825-541A0537CF81Q48244290-4A3C85F5-7ACD-4582-9042-D84ADF616E38Q51098160-E8811351-1D9B-4A2F-829F-89AAE34A77B0Q56387769-290E76F6-7230-4604-A18D-440DEC129668
P2860
Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa
description
1995 nî lūn-bûn
@nan
1995 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի մարտին 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
Premature termination codons o ...... strophic epidermolysis bullosa
@ast
Premature termination codons o ...... strophic epidermolysis bullosa
@en
Premature termination codons o ...... strophic epidermolysis bullosa
@nl
type
label
Premature termination codons o ...... strophic epidermolysis bullosa
@ast
Premature termination codons o ...... strophic epidermolysis bullosa
@en
Premature termination codons o ...... strophic epidermolysis bullosa
@nl
prefLabel
Premature termination codons o ...... strophic epidermolysis bullosa
@ast
Premature termination codons o ...... strophic epidermolysis bullosa
@en
Premature termination codons o ...... strophic epidermolysis bullosa
@nl
P2093
P2860
P356
P1476
Premature termination codons o ...... strophic epidermolysis bullosa
@en
P2093
P2860
P304
P356
10.1172/JCI117783
P407
P577
1995-03-01T00:00:00Z