相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。ABCA12-deficient Congenital Ichthyosiform Erythroderma in a Boy with an Intellectual Developmental Delay
Yukako Inoue et al.
ACTA DERMATO-VENEREOLOGICA (2015)
Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation
Sarah E. Flanagan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Targeted Sequence Capture and High-Throughput Sequencing in the Molecular Diagnosis of Ichthyosis and Other Skin Diseases
Claire A. Scott et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2013)
Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans
Franz P. W. Radner et al.
PLOS GENETICS (2013)
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans
Anais Grall et al.
NATURE GENETICS (2012)
Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Soreze 2009
Vinzenz Oji et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2010)
A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
T. Tsuda et al.
BRITISH JOURNAL OF DERMATOLOGY (2008)
Identification of preferred substrate sequences for transglutaminase 1-development of a novel peptide that can efficiently detect cross-linking enzyme activity in the skin
Yoshiaki Sugimura et al.
FEBS JOURNAL (2008)
分享论文
