Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.
about
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis.Oral manifestations as the main feature of late-onset recessive dystrophic epidermolysis bullosa.Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis
P2860
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.
description
2017 nî lūn-bûn
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2017年の論文
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2017年学术文章
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name
Sixteen novel mutations in PNP ...... r human skin barrier function.
@en
Sixteen novel mutations in PNP ...... r human skin barrier function.
@nl
type
label
Sixteen novel mutations in PNP ...... r human skin barrier function.
@en
Sixteen novel mutations in PNP ...... r human skin barrier function.
@nl
prefLabel
Sixteen novel mutations in PNP ...... r human skin barrier function.
@en
Sixteen novel mutations in PNP ...... r human skin barrier function.
@nl
P2093
P2860
P50
P356
P1476
Sixteen novel mutations in PNP ...... r human skin barrier function.
@en
P2093
A Vahlquist
P2860
P304
P356
10.1111/BJD.15308
P407
P577
2017-01-17T00:00:00Z