Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.
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Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.Quantification of 3-ketodihydrosphingosine using HPLC-ESI-MS/MS to study SPT activity in yeast Saccharomyces cerevisiae.CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris.
P2860
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.
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2017 nî lūn-bûn
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2017年の論文
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2017年論文
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2017年論文
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2017年論文
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2017年論文
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2017年論文
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2017年论文
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2017年论文
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2017年论文
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name
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.
@en
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.
@nl
type
label
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.
@en
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.
@nl
prefLabel
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.
@en
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.
@nl
P2093
P2860
P1476
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.
@en
P2093
Amy S Paller
Anne W Lucky
Brittany G Craiglow
Keith A Choate
Lowell A Goldsmith
Luis A Diaz
Lynn M Boyden
Nicholas G Vincent
Richard P Lifton
P2860
P304
P356
10.1016/J.AJHG.2017.05.003
P407
P577
2017-06-01T00:00:00Z