Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis.
about
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma.Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.Expression of transglutaminase activity in developing human epidermis.Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma.
P2860
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P2860
Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh-hant
name
Genetic and immunohistochemica ...... ents with lamellar ichthyosis.
@en
Genetic and immunohistochemica ...... ents with lamellar ichthyosis.
@nl
type
label
Genetic and immunohistochemica ...... ents with lamellar ichthyosis.
@en
Genetic and immunohistochemica ...... ents with lamellar ichthyosis.
@nl
prefLabel
Genetic and immunohistochemica ...... ents with lamellar ichthyosis.
@en
Genetic and immunohistochemica ...... ents with lamellar ichthyosis.
@nl
P2093
P356
P1433
P1476
Genetic and immunohistochemica ...... ents with lamellar ichthyosis.
@en
P2093
P2888
P304
P356
10.1007/S004390050697
P577
1998-03-01T00:00:00Z