A 93 year old man with the PRSS1 R122H mutation, low SPINK1 expression, and no pancreatitis: insights into phenotypic non-penetrance.
about
Genetics of pancreatitisTransgenic expression of pancreatic secretory trypsin inhibitor-1 rescues SPINK3-deficient mice and restores a normal pancreatic phenotypePathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis.Review of idiopathic pancreatitisCombined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis.Assessing the pathological relevance of SPINK1 promoter variants.Gene-environment factors that contribute to alcoholic pancreatitis in humans.Genetic risk factors for pancreatic disorders.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Genetics of pancreatitis: an update for clinicians and genetic counselors.Peering Into the "Black Box" of the Complex Chronic Pancreatitis SyndromePhenotypic non-penetrance in granular corneal dystrophy type II.Genetic Polymorphisms: A Novel Perspective on Acute Pancreatitis.Chronic pancreatitis.
P2860
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P2860
A 93 year old man with the PRSS1 R122H mutation, low SPINK1 expression, and no pancreatitis: insights into phenotypic non-penetrance.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
A 93 year old man with the PRS ...... nto phenotypic non-penetrance.
@ast
A 93 year old man with the PRS ...... nto phenotypic non-penetrance.
@en
type
label
A 93 year old man with the PRS ...... nto phenotypic non-penetrance.
@ast
A 93 year old man with the PRS ...... nto phenotypic non-penetrance.
@en
prefLabel
A 93 year old man with the PRS ...... nto phenotypic non-penetrance.
@ast
A 93 year old man with the PRS ...... nto phenotypic non-penetrance.
@en
P2093
P2860
P356
P1433
P1476
A 93 year old man with the PRS ...... into phenotypic non-penetrance
@en
P2093
P2860
P304
P356
10.1136/GUT.2005.067959
P407
P577
2005-12-14T00:00:00Z