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pachyonychia congenita/tyrosine

Sábháiltear an nasc chuig an gearrthaisce
AiltTrialacha cliniciúlaPaitinní
2 torthaí

[Two mutations of the KRT6A gene in Chinese patients with pachyonychia congenita type I].

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú
Logáil Isteach / Cláraigh
OBJECTIVE To investigate the gene mutation in a Chinese pedigree and one sporadic case with pachyonychia congenita type I(PC-1), as well as to explore the relationship between the genotype and phenotype. METHODS The whole coding region of the KRT16 and KRT6A genes were amplified by long-range

Peripheral neuropathic changes in pachyonychia congenita.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú
Logáil Isteach / Cláraigh
We compared patterns of intraepidermal nerve fibers and mechanoreceptors from affected and unaffected plantar skin from patients with pachyonychia congenita (PC) and control subjects. Plantar biopsies from 10 genetically confirmed patients with PC (with a mutation in KRT6A) were performed at the
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An bunachar luibheanna míochaine is iomláine le tacaíocht ón eolaíocht

  • Oibreacha i 55 teanga
  • Leigheasanna luibhe le tacaíocht ón eolaíocht
  • Aitheantas luibheanna de réir íomhá
  • Léarscáil GPS idirghníomhach - clibeáil luibheanna ar an láthair (ag teacht go luath)
  • Léigh foilseacháin eolaíochta a bhaineann le do chuardach
  • Cuardaigh luibheanna míochaine de réir a n-éifeachtaí
  • Eagraigh do chuid spéiseanna agus fanacht suas chun dáta leis an taighde nuachta, trialacha cliniciúla agus paitinní

Clóscríobh symptom nó galar agus léigh faoi luibheanna a d’fhéadfadh cabhrú, luibh a chlóscríobh agus galair agus comharthaí a úsáidtear ina choinne a fheiceáil.
* Tá an fhaisnéis uile bunaithe ar thaighde eolaíoch foilsithe

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