An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13.
about
Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesionA mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.Discovery in genetic skin disease: the impact of high throughput genetic technologies
P2860
An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年論文
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2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
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2003年论文
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2003年论文
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name
An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13.
@en
An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13.
@nl
type
label
An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13.
@en
An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13.
@nl
prefLabel
An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13.
@en
An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13.
@nl
P2093
P2860
P1476
An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13.
@en
P2093
Hatsell SJ
Jackson AP
Kelsell DP
Zvulunov A
P2860
P304
P356
10.1046/J.1365-2133.2003.05386.X
P407
P577
2003-07-01T00:00:00Z