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。Characterization of gene mutations and phenotypes of cystic fibrosis in Chinese patients
Yaping Liu et al.
RESPIROLOGY (2015)
Rescue of NBD2 Mutants N1303K and S1235R of CFTR by Small-Molecule Correctors and Transcomplementation
Daniele Rapino et al.
PLOS ONE (2015)
Cystic fibrosis: Experience in one institution
Ling-Chun Liu et al.
JOURNAL OF MICROBIOLOGY IMMUNOLOGY AND INFECTION (2014)
Multiple Local and Recent Founder Effects of TGM1 in Spanish Families
Laura Fachal et al.
PLOS ONE (2012)
An overview of international literature from cystic fibrosis registries. Part 3. Disease incidence, genotype/phenotype correlation, microbiology, pregnancy, clinical complications, lung transplantation, and miscellanea
Donatello Salvatore et al.
JOURNAL OF CYSTIC FIBROSIS (2011)
Skipping of exon 12 as a consequence of a point mutation (1898 + 5G → T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family
Julian Zielenski et al.
CLINICAL GENETICS (2010)
Genome-Wide Association Study in Asian Populations Identifies Variants in ETS1 and WDFY4 Associated with Systemic Lupus Erythematosus
Wanling Yang et al.
PLOS GENETICS (2010)
Direct Sensing of Intracellular pH by the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Cl- Channel
Jeng-Haur Chen et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
On the measurement of the functional properties of the CFTR
Oscar Moran et al.
JOURNAL OF CYSTIC FIBROSIS (2008)
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
C. Castellani et al.
JOURNAL OF CYSTIC FIBROSIS (2008)
Processing and function of CFTR-ΔF508 are species-dependent
Lynda S. Ostedgaard et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
A survey of newborn screening for cystic fibrosis in Europe
Kevin W. Southern et al.
JOURNAL OF CYSTIC FIBROSIS (2007)
Unusually common cystic fibrosis mutation in Portugal encodes a misprocessed protein
F Mendes et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2003)
Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations
LJC Wong et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
分享论文
