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Arylsulfatase E / Genodermatoses / X-linked recessive chondrodysplasia punctata / Cytochrome P450 reductase / Arylsulfatase / Warfarin / Vitamin K / Point mutation / Mutation / Biology / Chemistry / Genetics


Original Research Article © American College of Medical Genetics and Genomics A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations,
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Document Date: 2013-08-27 17:07:42

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Austin / Bradford / Exeter / Gaithersburg / Waltham / Sheffield / Madison / La Jolla / Mannheim / /

Company

Roche Diagnostics / Sigma-Aldrich / Molecular Genetics Laboratory / arylsulfatases ASA / PerkinElmer / Lin AE / GenBank / Weng LP / Exeter Foundation Trust / Schrödinger LLC / /

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Canada / United Kingdom / Germany / United States / /

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pence / /

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Facility

American College of Medical Genetics / C terminus of ARSE / Molecular Genetics Laboratory / VKORC1 complex / Montreal Children’s Hospital Research Institute / J. Craig Ventor Institute / McGill University / /

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active site / Search terms / protein product / online version / software version / maternal carrier frequency / 4MU product / carrier testing / carrier status / catalytic site / collaborative / putative active site / advance online publication / /

MedicalCondition

Keutel syndrome / MGP cause Keutel syndrome / maternal autoimmune diseases / brachytelephalangic chondrodysplasia punctata phenotype severity / warfarin embryopathy / peripheral pulmonary stenosis / panethnic congenital rare disorder / human matrix Gla protein cause Keutel syndrome / disorder / X-linked brachytelephalangic chondrodysplasia punctata / Inherited chondrodysplasia punctata / brachytelephalangic chondrodysplasia punctata / bone dysplasia / X-linked recessive chondrodysplasia punctata / stippled epiphyses / mixed connective tissue disease / deficiency / severe spinal cord compression / ichthyosis / scleroderma report / Ganglioneuroblastoma / systemic lupus erythematosus / K deficiency / Rare Genetic Diseases / maternal autoimmune disease / K deficiency embryopathy / Maternal systemic lupus erythematosus / Beighton P. Warfarin embryopathy / MS / Beighton P. Chondrodysplasia punctata / disease / hyperemesis gravidarum / multiple sulfatase deficiency / maternal lupus / autoimmune disease / chondrodysplasia punctata / conductive and sensorineural hearing loss / Binder syndrome / X-linked chondrodysplasia punctata / human disease / syndrome / X-linked ichthyosis / /

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Xp / /

Organization

American College of Medical Genetics / National Institutes of Health office of Rare / National Institutes of Health office of Rare Diseases Research / J. Craig Ventor Institute / McGill University / Montreal / National Institute of Health / Exeter National Health Service / Montreal Children’s Hospital Research Institute / Department of Human Genetics / /

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Sherri Bale / Nancy Braverman / Bradley Williams / Nicola Brunetti-Pierri / Rene St-Arnaud / Microplate Luminometer / Neck Surg / Martina Owens / Robert MacKenzie / Carolyn Tysoe / Claudia Matos-Miranda / Erminia Di Pietro / /

Position

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Product

vitamin K / glycine / estrone / /

ProgrammingLanguage

php / /

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Quebec / New Brunswick / Maryland / South Dakota / /

Technology

X-ray / human genome / genotype / Genomics / php / hybridization / directed mutagenesis / ultrasound / http / /

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http /

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