Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature.
about
A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens.New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing.Ichthyosis bullosa of Siemens.An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13.A new variant of autosomal recessive exfoliative ichthyosis.Establishment of keratinocyte cell lines from human hair folliclesDisorders of Keratinization
P2860
Q33932522-28DAE293-4E21-46CA-91A6-39CF2D1D8CB0Q34088849-51C2C87B-D4B0-4907-9CEE-63AB51E1A13CQ34425483-B73532A1-1421-4F55-A2F4-3C61213CE664Q36315634-EBDA6ED9-1A18-44E3-B8C6-3211997D0549Q42445396-1FBA67BA-5578-4EFE-A5B3-B1818A84D424Q42526918-9B9440EE-515E-4198-96E4-82F263061334Q58759734-B16306AD-1FDF-457A-9960-3837C5DC079CQ58859701-B08C467E-2C7F-4AFD-8031-4F2E4ED2EFAD
P2860
Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature.
description
1999 nî lūn-bûn
@nan
1999 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի ապրիլին 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
Ichthyosis bullosa of Siemens: ...... nd a review of the literature.
@ast
Ichthyosis bullosa of Siemens: ...... nd a review of the literature.
@en
type
label
Ichthyosis bullosa of Siemens: ...... nd a review of the literature.
@ast
Ichthyosis bullosa of Siemens: ...... nd a review of the literature.
@en
prefLabel
Ichthyosis bullosa of Siemens: ...... nd a review of the literature.
@ast
Ichthyosis bullosa of Siemens: ...... nd a review of the literature.
@en
P2093
P2860
P1476
Ichthyosis bullosa of Siemens: ...... nd a review of the literature.
@en
P2093
Jolliffe VM
P2860
P304
P356
10.1046/J.1365-2133.1999.02772.X
P407
P577
1999-04-01T00:00:00Z