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1. WO2012158711 - IDENTIFICATION OF THE CAUSATIVE MUTATION FOR INHERITED CONNECTIVE TISSUE DISORDERS IN EQUINES

Publication Number WO/2012/158711
Publication Date 22.11.2012
International Application No. PCT/US2012/037981
International Filing Date 15.05.2012
IPC
C12Q 1/68 2006.1
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68involving nucleic acids
CPC
C12Q 1/6883
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms
68involving nucleic acids
6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
6883for diseases caused by alterations of genetic material
C12Q 2600/156
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
2600Oligonucleotides characterized by their use
156Polymorphic or mutational markers
Applicants
  • CORNELL UNIVERSITY [US]/[US] (AllExceptUS)
  • WINAND, Nena, J. [US]/[US] (UsOnly)
Inventors
  • WINAND, Nena, J.
Agents
  • LOPINSKI, John, D.
Priority Data
61/486,46416.05.2011US
Publication Language English (en)
Filing Language English (EN)
Designated States
Title
(EN) IDENTIFICATION OF THE CAUSATIVE MUTATION FOR INHERITED CONNECTIVE TISSUE DISORDERS IN EQUINES
(FR) IDENTIFICATION DE LA MUTATION RESPONSABLE DE TROUBLES DU TISSU CONJONCTIF HÉRÉDITAIRES CHEZ LES ÉQUIDÉS
Abstract
(EN) Provided is a description of a mutation which is positively correlated with Warmblood Fragile Foal Syndrome Type 1 (WFFST1). The mutation is a G to A change at a specific location in the equine lysyl hydroxylase 1 (LH1) gene. Compositions and methods for use in diagnosing WFFST1 are provided.
(FR) L'invention porte sur une description d'une mutation qui est positivement corrélée au syndrome du poulain à sang chaud fragile de type 1 (WFFST1). La mutation est un changement de G en A en un endroit spécifique dans le gène de la lysyl hydroxylase 1 (LH1) équine. L'invention porte également sur des compositions et des procédés destinés à être utilisés dans le diagnostic du WFFST1.
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