Identification of a gene and mutation responsible for autosomal recessive congenital hydrocephalus

The invention relates to the polynucleotide sequence of the Hydrocephalus-associated gene (Hydin), the polypeptide it encodes and uses therefore. The invention also relates to the mutation in the Hydin gene that is responsible for the development of hydrocephalus. The invention provides for methods...

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Bibliographische Detailangaben
Hauptverfasser:	DAVY BRIAN E, ROBINSON MICHAEL L
Format:	Patent
Sprache:	eng
Schlagworte:	BEER BIOCHEMISTRY CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES DERIVATIVES THEREOF ENZYMOLOGY FERMENTATION OR ENZYME-USING PROCESSES TO SYNTHESISE A DESIREDCHEMICAL COMPOUND OR COMPOSITION OR TO SEPARATE OPTICAL ISOMERSFROM A RACEMIC MIXTURE MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS METALLURGY MICROBIOLOGY MUTATION OR GENETIC ENGINEERING NUCLEIC ACIDS NUCLEOSIDES NUCLEOTIDES ORGANIC CHEMISTRY PEPTIDES PROCESSES OF PREPARING SUCH COMPOSITIONS SPIRITS SUGARS VINEGAR WINE
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Beschreibung
Zusammenfassung:	The invention relates to the polynucleotide sequence of the Hydrocephalus-associated gene (Hydin), the polypeptide it encodes and uses therefore. The invention also relates to the mutation in the Hydin gene that is responsible for the development of hydrocephalus. The invention provides for methods of diagnosing hydrocephalus and cilia dysfunction-related disorders.