Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients.
about
CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database updateHeterozygous Ile453Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of cathepsin C are associated with Haim-Munk syndromeGenetic polymorphisms of interleukin-1 alpha and the vitamin d receptor in mexican mestizo patients with intervertebral disc degenerationNeutrophil maturation rate determines the effects of dipeptidyl peptidase 1 inhibition on neutrophil serine protease activity.A novel large deletion combined with a nonsense mutation in a Chinese child with Papillon-Lefèvre syndrome.Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon-Lefèvre Syndrome?
P2860
Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients.
description
2013 nî lūn-bûn
@nan
2013 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Identification of novel mutati ...... Syndrome in Mexican patients.
@ast
Identification of novel mutati ...... Syndrome in Mexican patients.
@en
Identification of novel mutati ...... Syndrome in Mexican patients.
@nl
type
label
Identification of novel mutati ...... Syndrome in Mexican patients.
@ast
Identification of novel mutati ...... Syndrome in Mexican patients.
@en
Identification of novel mutati ...... Syndrome in Mexican patients.
@nl
prefLabel
Identification of novel mutati ...... Syndrome in Mexican patients.
@ast
Identification of novel mutati ...... Syndrome in Mexican patients.
@en
Identification of novel mutati ...... Syndrome in Mexican patients.
@nl
P2093
P2860
P356
P1433
P1476
Identification of novel mutati ...... e Syndrome in Mexican patients
@en
P2093
Eliakym Arámbula-Meraz
Jesús D Melchor-Soto
Jesús E Dueñas-Arias
José G Romero-Navarro
José G Romero-Quintana
Luis O Frías-Castro
Maribel Aguilar-Medina
P2860
P2888
P356
10.1186/1471-2350-14-7
P577
2013-01-11T00:00:00Z
P5875
P6179
1006273690