The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype.
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A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin TransporterIdentification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis.Interleukin-6, tumor necrosis factor-alpha and receptor activator of nuclear factor kappa ligand are elevated in hypertrophic gastric mucosa of pachydermoperiostosis.Clinical, Biochemical, and Genetic Features of 41 Han Chinese Families With Primary Hypertrophic Osteoarthropathy, and Their Therapeutic Response to Etoricoxib: Results From a Six-Month Prospective Clinical Intervention.Facial Manifestations of Pachydermoperiostosis Treated with Botulinum Toxin Type-A: Report of 3 Cases.
P2860
The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype.
description
2014 nî lūn-bûn
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name
The novel SLCO2A1 heterozygous ...... is with an atypical phenotype.
@en
The novel SLCO2A1 heterozygous ...... is with an atypical phenotype.
@nl
type
label
The novel SLCO2A1 heterozygous ...... is with an atypical phenotype.
@en
The novel SLCO2A1 heterozygous ...... is with an atypical phenotype.
@nl
prefLabel
The novel SLCO2A1 heterozygous ...... is with an atypical phenotype.
@en
The novel SLCO2A1 heterozygous ...... is with an atypical phenotype.
@nl
P2093
P2860
P356
P1476
The novel SLCO2A1 heterozygous ...... is with an atypical phenotype.
@en
P2093
A Hirakiyama
A Shiohama
M Takeshita
P2860
P304
P356
10.1111/BJD.12790
P407
P577
2014-05-01T00:00:00Z