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1.
CRISPR/Cas9-Mediated Treatment Ameliorates the Phenotype of the Epidermolytic Palmoplantar Keratoderma-like Mouse.
Mol Ther Nucleic Acids
; 12: 220-228, 2018 Sep 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30195761
2.
A Small Indel Mutant Mouse Model of Epidermolytic Palmoplantar Keratoderma and Its Application to Mutant-specific shRNA Therapy.
Mol Ther Nucleic Acids
; 5: e299, 2016 Mar 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-27003758
3.
[Effect of alpha-difluoromethylornithine on growth characteristics and expression of ALT-04ag gene of human lung carcinoma cells].
Zhongguo Yi Xue Ke Xue Yuan Xue Bao
; 24(4): 377-80, 2002 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-12905657
4.
KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma.
Gene
; 546(1): 124-8, 2014 Aug 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-24862219
5.
Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations.
Gene
; 516(1): 93-100, 2013 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-23266634
6.
The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees.
Anat Rec (Hoboken)
; 295(4): 604-9, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22262370
7.
Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease.
Gene
; 507(2): 174-6, 2012 Oct 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-22750798
8.
Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.
Eur J Dermatol
; 22(4): 476-80, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22668561
9.
RET proto-oncogene genetic screening of families with multiple endocrine neoplasia type 2 optimizes diagnostic and clinical management in China.
Thyroid
; 22(12): 1257-65, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23210566
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