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Signal transduction / Genetics / Cell signaling / Fas ligand / Lymphoproliferative disorders / Fas receptor / Mutation / Apoptosis / Haploinsufficiency / Biology / Immune system / Programmed cell death


©American College of Medical Genetics original research article Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain:
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Document Date: 2012-04-04 15:27:56

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Leitersdorf / Carlsbad / Minneapolis / Valencia / Billerica / San Luis Obispo / Bethesda / San Jose / /

Company

National Institute of Allergy / Millipore / Qiagen / L. A / E1 127 / /

Country

United States / /

Currency

pence / /

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Event

FDA Phase / Product Issues / /

Facility

Carney complex / National Human Genome Research Institute / National Institute of Allergy / Human Genome Research Institute / American College of Medical Genetics / Laboratory of Clinical Infectious Diseases / Laboratory Medicine / Warren Grant Magnuson Clinical Center / University of California / /

IndustryTerm

mRNA processing / online version / online bioinformatics / treatment of autoimmune lymphoproliferative syndrome / ligand binding site / splice site / advance online publication / splice products / mutation / linear site / /

MedicalCondition

rare / heritable disorder / lymphoproliferative syndrome / systemic lupus erythematosus / periodic lymphoma surveillance / JE / lymphoma / myxomas / Hodgkin’s disease / recessive disease / chronic lymphadenopathy / non-death domain FAS mutations causing autoimmune lymphoproliferative syndrome / thrombocytopenia / human autoimmune lymphoproliferative syndrome / Hereditary angioedema / disorder / genetically undefined autoimmune lymphoproliferative syndrome / MS / Fas (CD95) deficiency / disease / refractory autoimmune thrombocytopenic purpura / tumor necrosis / schwannomas / Infectious Diseases / non-death domain autoimmune lymphoproliferative syndrome / autoimmune lymphoproliferative syndrome / Infectious Disease / T-cell lymphoma / hypercholesterolemia / human disease / syndrome / /

MedicalTreatment

Bone Marrow Transplant / counseling / /

NaturalFeature

ALPS / Janet Dale / /

Organization

American College of Medical Genetics / National Human Genome Research Institute / National Institute of Health / 4National Human Genome Research Institute / Laboratory of Clinical Infectious Diseases / Department of Pediatrics / ND ND / University of California / San Francisco / San Francisco / National Institute of Allergy and Infectious Diseases / Warren Grant Magnuson Clinical Center / National Institute of Allergy / /

Person

Warren Grant Magnuson / Roxanne E. Fischer / Pamela A. Shaw / Julie E. Niemela / Stacie M. Anderson / Amy P. Hsu / Joie Davis / Tom Fleisher / Mike Lenardo / Jennifer M. Puck / Stephen Straus / Ann N Y Acad Sci / /

Position

full-length mutant messenger / RT / messenger / CH11 FAS-L pCI GFP fluorescence Wild type I262T L7P D108G Forward / Cao / Fisher / representative / Forward / /

Product

fs / IL-2 / FAS protein / I-0066 / low density lipoprotein receptors / signal sequence preventing surface protein expression / Fas / apoptosis / c-Mpl signaling / /

ProgrammingLanguage

php / /

ProvinceOrState

Maryland / California / /

PublishedMedium

Clinical Infectious Diseases / /

RadioStation

Peters AM / /

Technology

alpha / bioinformatics / antibodies / Cloning / transplantation / Stem Cells / Human Genome / apoptosis / http / genotype / /

URL

http /

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