Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.
about
Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair textureCollapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratodermaNew mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.In vitro assembly and structure of trichocyte keratin intermediate filaments: a novel role for stabilization by disulfide bonding.Differential diagnosis of hair loss in children.A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrixTranscription regulation and protein subcellular localization of the truncated basic hair keratin hHb1-DeltaN in human breast cancer cells.Monilethrix with variable expressivity.Expression of type I hair keratins in follicular tumours.Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix.De novo mutations in monilethrix.Hereditary 'white nails': a genetic and structural study.A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism.Polymorphisms in the human high sulfur hair keratin-associated protein 1, KAP1, gene family.A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance.Novel KRT83 and KRT86 mutations associated with monilethrix.Severe monilethrix associated with intractable scalp pruritus, posterior subcapsular cataract, brachiocephaly, and distinct facial features: a new variant of monilethrix syndrome?Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix.
P2860
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P2860
Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.
description
1999 nî lūn-bûn
@nan
1999 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Identification of novel mutati ...... ucture and clinical phenotype.
@ast
Identification of novel mutati ...... ucture and clinical phenotype.
@en
type
label
Identification of novel mutati ...... ucture and clinical phenotype.
@ast
Identification of novel mutati ...... ucture and clinical phenotype.
@en
prefLabel
Identification of novel mutati ...... ucture and clinical phenotype.
@ast
Identification of novel mutati ...... ucture and clinical phenotype.
@en
P2093
P1476
Identification of novel mutati ...... ructure and clinical phenotype
@en
P2093
Birch-MacHin M
Messenger AG
P304
P356
10.1046/J.1523-1747.1999.00722.X
P407
P577
1999-10-01T00:00:00Z
P5875
P6179
1027088991