A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy.
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Inactivating mutation in the prostaglandin transporter gene, SLCO2A1, associated with familial digital clubbing, colon neoplasia, and NSAID resistance.Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathyGenetic variability in key genes in prostaglandin E2 pathway (COX-2, HPGD, ABCC4 and SLCO2A1) and their involvement in colorectal cancer development.Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis.A second-generation 15-PGDH inhibitor promotes bone marrow transplant recovery independent of age, transplant dose, and G-CSF support.A novel mutation in the gene results in the unusual phenotype of palmoplantar keratoderma with digital clubbing and hyperhidrosis
P2860
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on March 2010
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A novel homozygous splice site ...... hypertrophic osteoarthropathy.
@en
A novel homozygous splice site ...... hypertrophic osteoarthropathy.
@nl
type
label
A novel homozygous splice site ...... hypertrophic osteoarthropathy.
@en
A novel homozygous splice site ...... hypertrophic osteoarthropathy.
@nl
prefLabel
A novel homozygous splice site ...... hypertrophic osteoarthropathy.
@en
A novel homozygous splice site ...... hypertrophic osteoarthropathy.
@nl
P2093
P1476
A novel homozygous splice site ...... hypertrophic osteoarthropathy.
@en
P2093
B Dallapiccola
F Brancati
I Bottillo
L Sinibaldi
M Iannicelli
S El Hassani
P304
P577
2010-03-01T00:00:00Z