CDNA CLONE OF MODIFIED HUMAN PHENYLALANINE HYDROGENASE, GENETIC CLONE OF PHENYLALANINE HYDROGENASE OF HUMAN DUPLOID,FRAGMENTS THEREOF, PRODUCTION THEREOF AND DIAGNOSIS OF CLASSICAL PHENYLKETOURENIA

Title:

CDNA CLONE OF MODIFIED HUMAN PHENYLALANINE HYDROGENASE, GENETIC CLONE OF PHENYLALANINE HYDROGENASE OF HUMAN DUPLOID,FRAGMENTS THEREOF, PRODUCTION THEREOF AND DIAGNOSIS OF CLASSICAL PHENYLKETOURENIA

Document Type and Number:

Japanese Patent JPS6131089

Kind Code:

A

Abstract:

Described are full-length human phenylalanine hydroxylase cDNA clones, human chromosomal phenylalanine hydroxylase genes and fragments thereof, methods of their production, and the use of these in the diagnosis of the human genetic disorder, classical phenylketonuria (PKU), a hereditary disorder in phenylalanine metabolism that causes permanent mental retardation in humans, and the identification of heterozygous trait carriers as well as other linking genetic disorders. The present invention makes possible mass screening for practically all PKU families.

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Inventors:

SABIO ERU SHII UU
TEII CHIYANDORA SHIRUMARACHIYA
ARAN ESU RIIDOSUKII
KASURIN JIEI ETSUCHI ROBUSON

Application Number:

JP7684985A

Publication Date:

February 13, 1986

Filing Date:

April 12, 1985

Export Citation:

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Assignee:

HAWAADE HIYUUJISU MEDICAL INST

International Classes:

A61K38/44; C12N1/20; C12N9/02; C12N15/09; C12Q1/68; G01N33/64; G01N33/50; C12R1/19; (IPC1-7): A61K35/74; A61K37/50; C07H21/04; C12N1/20; C12N15/00; C12Q1/68; C12R1/19; G01N33/50; G01N33/64

Attorney, Agent or Firm:

Tsukimura Shigeru

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