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Mutation / Brevican / Compound heterozygosity / SNP genotyping / Single-nucleotide polymorphism / Restriction fragment length polymorphism / Genotype / Genome-wide association study / Genotyping / Biology / Genetics / Philosophy of biology


Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed Oliver P. Forman1*, Jacques Penderis2., Claudia Hartley1., Louisa J.
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Document Date: 2012-08-17 12:00:59


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City

Kentford / Koedam / Rees / /

Company

Life Technologies / Agilent Technologies / Millipore / Qiagen / Animal Health Trust / Integrated DNA Technologies / Tezmae Charitable Trust / Brown / Genbank / Busch HF / Cox / Creative Commons / Kennel Club Charitable Trust / /

Country

United Kingdom / /

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Event

Product Issues / Person Communication and Meetings / /

Facility

University of Bern / Kennel Club Charitable Trust / University of Glasgow / C terminal / Wellcome Trust Centre / University of Oxford / /

IndustryTerm

reagents/materials/analysis tools / generation technology / online tool e-array / /

MedicalCondition

CKCS ichthyosis / idiopathic epilepsy / dyskinesia / Becker’s disease / premature tooth loss / disorder / similar disease / Brody disease / distinct autosomal recessive disorders / Muscle contracture / episodic falling syndrome / autosomal dominant myotonia congenita / Myotonia / paroxysmal dyskinesia / congenital keratoconjunctivitis sicca / ichthyosiform dermatosis / ectodermal dysplasia keratitis-ichthyosis-deafness syndrome / keratoconjunctivitis / Paroxysmal dyskinesias / dominant neurologic disorder / autosomal-dominant hypocalcification amelogenesis imperfecta / Discrete Inherited Disorders / phenotypically distinct condition congenital keratoconjunctivitis sicca / involuntary movements / Brody’s myopathy / associated gingivitis / ichthyosis / disorders / epileptic seizures / DF / dry eye curly coat syndrome / primary epilepsy / muscular hypertonicity / human disorders / exercise-induced muscular hypertonicity / autosomal recessive centronuclear myopathy / naturally-occurring diseases / cases epilepsy / associated disease / inherited disorders / deafness / least two autosomal recessive disorders / dominant and recessive human myotonia / how two disease / both diseases / canine disease / dermoid sinus / hereditary cataract / hereditary cataracts / CKCSID disease / keratoconjunctivitis sicca / hemolytic anemia / equivalent disease / amelogenesis imperfecta / centronuclear myopathy / disease / myotonia hereditaria / recessive epidermolytic hyperkeratosis / paroxysmal exertion-induced dyskinesias / contraction / pain / recessive myotonia congenita / distinct inherited disorders / each disease / tooth disease / paroxysmal exertion-induced dyskinesia / Neurological diseases / congenital disorder / syndrome / Thomsen’s disease / /

MedicalTreatment

invasive procedure / relaxation / /

Organization

EF / CKCSID association / University of Oxford / University of Bern / Wellcome Trust Centre for Human Genetics / University of Glasgow / Glasgow / MADD / School of Veterinary Medicine / Waltham Foundation / Kennel Club Genetics Centre / /

Person

Salmon Hillbertz / Charles Spaniel / Arch Dermatol / Jack Russell Terrier / /

Position

original author / Steijlen PM / head / biologist / King / veterinarian / Editor / veterinary neurologist / Ethics statement Author / /

Product

clonazepam / L-2hydroxyglutaric / glycine / Qiagen RNeasy / recessive lamellar ichthyosis / tooth enamel formation / /

PublishedMedium

PLoS Genetics / /

Technology

genotyping / human genome / gene expression / CanineHD chip / generation technology / Genotype / recombination / gel electrophoresis / Midi / alpha / Genomics / Bioinformatics / electrophoresis / cloning / DNA sequencing / SNP / /

URL

http /

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