Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.
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Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.Collodion baby: a follow-up study of 17 cases.Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis.Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.Bullous and non-bullous ichthyosiform erythroderma associated with generalized pustular psoriasis of von Zumbusch type.Type I lamellar ichthyosis improved by tazarotene 0.1% gel.Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma.Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.
P2860
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P2860
Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.
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2000 nî lūn-bûn
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2000 թուականի Մարտին հրատարակուած գիտական յօդուած
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name
Assignment of a novel locus fo ...... s to chromosome 19p13.1-p13.2.
@ast
Assignment of a novel locus fo ...... s to chromosome 19p13.1-p13.2.
@en
Assignment of a novel locus fo ...... s to chromosome 19p13.1-p13.2.
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type
label
Assignment of a novel locus fo ...... s to chromosome 19p13.1-p13.2.
@ast
Assignment of a novel locus fo ...... s to chromosome 19p13.1-p13.2.
@en
Assignment of a novel locus fo ...... s to chromosome 19p13.1-p13.2.
@nl
prefLabel
Assignment of a novel locus fo ...... s to chromosome 19p13.1-p13.2.
@ast
Assignment of a novel locus fo ...... s to chromosome 19p13.1-p13.2.
@en
Assignment of a novel locus fo ...... s to chromosome 19p13.1-p13.2.
@nl
P2093
P2860
P921
P356
P1476
Assignment of a novel locus fo ...... s to chromosome 19p13.1-p13.2.
@en
P2093
P2860
P304
P356
10.1086/302813
P407
P577
2000-03-01T00:00:00Z