P. Lee

发表

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.

E. Beutler, C. Van Geet, J. Truksa, 2010, Blood cells, molecules & diseases.

A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease.

E. Green, S. Chanock, P. Hopkins, 1997, The Journal of clinical investigation.

The effect of transferrin polymorphisms on iron metabolism.

E. Beutler, P. Lee, N. Ho, 1999, Blood cells, molecules & diseases.

Polymorphisms in the transferrin 5' flanking region associated with differences in total iron binding capacity: possible implications in iron homeostasis.

E. Beutler, Pauline L. Lee, P. Lee, 2001, Blood cells, molecules & diseases.

Human transferrin G277S mutation: a risk factor for iron deficiency anaemia

V. Felitti, E. Beutler, Pauline L. Lee, 2001, British journal of haematology.

Early age‐of‐onset iron overload and homozygosity for the novel hemojuvelin mutation HJV R54X (exon 3; c.160A→T) in an African American male of West Indies descent

J. Barton, P. Lee, M. Kalavar, 2008, Clinical genetics.

A strategy for cloning the hereditary hemochromatosis gene.

E. Beutler, W. Kuhl, C. West, 1995, Blood cells, molecules & diseases.

Mutation analysis of the transferrin receptor-2 gene in patients with iron overload.

E. Beutler, C. West, P. Lee, 2001, Blood cells, molecules & diseases.

exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.

J. Duncan, J. Heckenlively, S. Riazuddin, 2014, Genomics.

Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.

M. Tuchman, P. Willems, J. Keating, 1999, American journal of human genetics.

X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.

E. Dams, P. Willems, P. Coucke, 1996, Human molecular genetics.

Three genes encoding zinc finger proteins on human chromosome 6p21.3: members of a new subclass of the Kruppel gene family containing the conserved SCAN box domain.

E. Beutler, C. West, T. Gelbart, 1997, Genomics.

Methods exomeSuite : Whole exome sequence variant fi ltering tool for rapid identi fi cation of putative disease causing SNVs / indels

J. Duncan, J. Heckenlively, S. Riazuddin, 2014 .

A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin.

V. Felitti, E. Beutler, Pauline L. Lee, 2001, Blood cells, molecules & diseases.

NADH-ferric reductase activity associated with dihydropteridine reductase.

E. Beutler, A. Cross, P. Lee, 2000, Biochemical and biophysical research communications.

Genomic structure of the human p47-phox (NCF1) gene.

S. Chanock, P. Hopkins, J. Roesler, 2000, Blood cells, molecules & diseases.

Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.

E. Dams, P. Willems, P. Coucke, 1995, Human molecular genetics.

Mutation analysis in hereditary hemochromatosis.

C. Venditti, E. Beutler, M. Kosty, 1996, Blood cells, molecules & diseases.

Human glucose phosphate isomerase: exon mapping and gene structure.

E. Beutler, W. Xu, P. Lee, 1995, Genomics.

Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2).

R. Berger, J. Smeitink, P. Coucke, 1994, Genomics.

The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms.

E. Beutler, Pauline L. Lee, C. West, 1998, Blood cells, molecules & diseases.

Homology between a human protein and a protein of the green garden pea.

E. Beutler, Pauline L. Lee, W. Kuhl, 1994, Genomics.