Disease-modifying genes and monogenic disorders: experience in cystic fibrosis.
about
Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiencyRibosomal Stalk Protein Silencing Partially Corrects the ΔF508-CFTR Functional Expression DefectRecent advances in understanding and managing cystic fibrosis transmembrane conductance regulator dysfunction.Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders.Candidate genetic modifiers of retinitis pigmentosa identified by exploiting natural variation in DrosophilaDNA methylation at modifier genes of lung disease severity is altered in cystic fibrosis.A Next Generation Multiscale View of Inborn Errors of Metabolism.Beyond pancreatic insufficiency and liver disease in cystic fibrosis.Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis.Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy.IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability.Transcriptomic profile of cystic fibrosis patients identifies type I interferon response and ribosomal stalk proteins as potential modifiers of disease severityThe population genetics of human disease: The case of recessive, lethal mutations.Pla2g6 Deficiency in Zebrafish Leads to Dopaminergic Cell Death, Axonal Degeneration, Increased β-Synuclein Expression, and Defects in Brain Functions and Pathways.Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations.Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.MECP2 variation in Rett syndrome - an overview of current coverage of genetic and phenotype data within existing databasesKcnn4 is a modifier gene of intestinal cystic fibrosis preventing lethality in the Cftr-F508del mouse.Baldspot/ELOVL6 is a conserved modifier of disease and the ER stress response
P2860
Q24309032-63090D08-3895-42B1-93DD-B5AB6D8E4B21Q28551966-1B51246C-81DC-493B-8B7D-753FBD0EBC73Q35659323-403814D6-8113-408F-B4B8-6A647EFAA5F7Q36246158-2F18E188-3479-473A-9735-911B4C071A97Q36551266-9B549470-9C6C-472D-ACF9-AA4F6B84014BQ37642982-525D9CAD-753C-4E9E-B160-758376A2E65EQ38681906-FD8CEF7D-303F-4ACA-B9A0-81B62140906FQ38800967-C3E579E1-4556-4573-B018-9EC87F2BA369Q38922232-715E5CAE-3EB9-4BDD-8A80-3AFD1ECE36ACQ40408847-2A65D0FB-FA52-4147-85DB-70A6E7B11F1DQ40664954-E065A4EE-FC05-4DB4-92A6-58E1A237A86DQ41533194-DE01D7F0-BE36-4B70-90F8-1D923061CBBEQ42366136-43B79D47-3999-4A16-8CFC-44E89E8D17CCQ47854549-BBBF374C-EB8C-4B66-8ECF-6B50FA77C5CEQ49527986-B443CD8E-4CDB-459B-A65D-14BB49576F24Q50137778-4F286CC9-5184-4992-B26A-F61295F18E1BQ52312226-D7504C7E-9CC0-4185-811C-90A53AAAF76BQ55396999-F7508913-1C05-4B09-8DD4-7D915E2EB5A8Q58799768-93A63DA4-EBF5-4C6B-AFE0-8E04EBD7172A
P2860
Disease-modifying genes and monogenic disorders: experience in cystic fibrosis.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh
2014年學術文章
@zh-hant
name
Disease-modifying genes and monogenic disorders: experience in cystic fibrosis.
@en
type
label
Disease-modifying genes and monogenic disorders: experience in cystic fibrosis.
@en
prefLabel
Disease-modifying genes and monogenic disorders: experience in cystic fibrosis.
@en
P2860
P356
P1476
Disease-modifying genes and monogenic disorders: experience in cystic fibrosis.
@en
P2093
Sabina Gallati
P2860
P304
P356
10.2147/TACG.S18675
P577
2014-07-10T00:00:00Z