Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.
about
Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypesMutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosaRat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effectBullous dermolysis of the newborn: four new cases and clinical review.Recessive bullous dermolysis of the newborn in preterm siblings with a missense mutation in type VII collagen.Genetics of human isolated hereditary nail disorders.Intraepidermal Type VII Collagen by Immunofluorescence Mapping: A Specific Finding for Bullous Dermolysis of the Newborn.Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.Transient bullous dermolysis of the newborn in three generations.Dilemmas in distinguishing between dominant and recessive forms of dystrophic 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.Multiple Milia as an Isolated Skin Manifestation of Dominant Dystrophic Epidermolysis Bullosa: Evidence of Phenotypic Variability.
P2860
Q24539094-A646BE4F-DC20-43D8-8ED8-971A5B40D51AQ24648149-4ACC9C0F-C631-45FB-93B9-154EBEF48CAEQ28284115-58D717D4-F35E-4DC4-B7B3-53227304C8E2Q34745503-7A19B5D7-AA93-4AB5-9858-ED0087C16606Q38151794-2BB537CF-23CC-4A16-97F5-CFA9FF7FAABEQ38339511-74858317-6D0C-4467-9CC2-722CAAF87909Q38543435-D225AC62-BB49-4C5C-ABD1-19C0547F266BQ39317520-264BD13A-D75F-4AE7-8548-5CC91546113FQ41176379-106338F8-DEFB-4AD0-AC51-4FC42649C887Q42485297-690D11B5-8C1B-481A-8152-2070AD74A153Q44654984-DF6434A9-AF32-4510-9C3E-278F3D76D9C0Q51098160-F401A26C-6CCC-4B44-96B3-9F1CC51FF194Q51240935-E5F0F84B-D48A-4257-87BA-5AF54F68E49B
P2860
Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.
description
1998 nî lūn-bûn
@nan
1998 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Transient bullous dermolysis o ...... and dominant COL7A1 mutations.
@ast
Transient bullous dermolysis o ...... and dominant COL7A1 mutations.
@en
Transient bullous dermolysis o ...... and dominant COL7A1 mutations.
@nl
type
label
Transient bullous dermolysis o ...... and dominant COL7A1 mutations.
@ast
Transient bullous dermolysis o ...... and dominant COL7A1 mutations.
@en
Transient bullous dermolysis o ...... and dominant COL7A1 mutations.
@nl
prefLabel
Transient bullous dermolysis o ...... and dominant COL7A1 mutations.
@ast
Transient bullous dermolysis o ...... and dominant COL7A1 mutations.
@en
Transient bullous dermolysis o ...... and dominant COL7A1 mutations.
@nl
P2093
P1476
Transient bullous dermolysis o ...... and dominant COL7A1 mutations
@en
P2093
Bruckner-Tuderman L
Hammami-Hauasli N
P304
P356
10.1046/J.1523-1747.1998.00394.X
P407
P577
1998-12-01T00:00:00Z
P5875
P6179
1046386894