about
p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.Phenotypic expression of the p.Leu1077Pro CFTR mutation in Sicilian cystic fibrosis patients.Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.Atypical cystic fibrosis: identification in the primary care setting.Genetic risk factors for pancreatic disorders.Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens.Diagnostic CFTR mutation analysis.Electrolyte abnormalities in cystic fibrosis: systematic review of the literature.Clinical approach to the diagnosis and treatment of cystic fibrosis and CFTR-related disorders.Role of tyrosine phosphorylation in the muscarinic activation of the cystic fibrosis transmembrane conductance regulator (CFTR).Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis.Diabetes and primary infertility in young males: do not forget cystic fibrosis.Clinical diagnostic Next-Generation sequencing: the case of CFTR carrier screening.Adult-onset cystic fibrosis in an African-American male.Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers.Carrier detection and clinical uncertainty: the case for public health ethics
P2860
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P2860
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Atypical CF and CF related diseases.
@ast
Atypical CF and CF related diseases.
@en
type
label
Atypical CF and CF related diseases.
@ast
Atypical CF and CF related diseases.
@en
prefLabel
Atypical CF and CF related diseases.
@ast
Atypical CF and CF related diseases.
@en
P1476
Atypical CF and CF related diseases.
@en
P2093
Eitan Kerem
P304
P356
10.1016/J.PRRV.2006.04.219
P478
P577
2006-06-05T00:00:00Z