DK164885A - ''humane phenylalaninhydroxylase cdna kloner, humane chromosomale phenylalaninhydroxylasegenkloner og fragmenter deraf, fremgangsmaade til fremstilling deraf og deres anvendelse ved diagnosticering af klassisk phenylketonuri'' - Google Patents

''humane phenylalaninhydroxylase cdna kloner, humane chromosomale phenylalaninhydroxylasegenkloner og fragmenter deraf, fremgangsmaade til fremstilling deraf og deres anvendelse ved diagnosticering af klassisk phenylketonuri'' Download PDF

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Publication number
DK164885A
DK164885A DK164885A DK164885A DK164885A DK 164885 A DK164885 A DK 164885A DK 164885 A DK164885 A DK 164885A DK 164885 A DK164885 A DK 164885A DK 164885 A DK164885 A DK 164885A
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Prior art keywords
phenylalanine
clones
dielonic
humane
fragments
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Application number
DK164885A
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English (en)
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DK164885D0 (da
Inventor
Savio L C Woo
T Chandra Thirumalachary
Allan S Lidsky
Kathryn J H Robson
Original Assignee
Hughes Howard Med Inst
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Application filed by Hughes Howard Med Inst filed Critical Hughes Howard Med Inst
Publication of DK164885D0 publication Critical patent/DK164885D0/da
Publication of DK164885A publication Critical patent/DK164885A/da

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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/0004—Oxidoreductases (1.)
    • C12N9/0071—Oxidoreductases (1.) acting on paired donors with incorporation of molecular oxygen (1.14)
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y114/00—Oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (1.14)
    • C12Y114/16—Oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (1.14) with reduced pteridine as one donor, and incorporation of one atom of oxygen (1.14.16)
    • C12Y114/16001—Phenylalanine 4-monooxygenase (1.14.16.1)
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/172—Haplotypes

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biochemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • General Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Molecular Biology (AREA)
  • Analytical Chemistry (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Biomedical Technology (AREA)
  • Pathology (AREA)
  • Medicinal Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Biophysics (AREA)
  • Immunology (AREA)
  • Enzymes And Modification Thereof (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Preparation Of Compounds By Using Micro-Organisms (AREA)
DK164885A 1984-04-13 1985-04-12 ''humane phenylalaninhydroxylase cdna kloner, humane chromosomale phenylalaninhydroxylasegenkloner og fragmenter deraf, fremgangsmaade til fremstilling deraf og deres anvendelse ved diagnosticering af klassisk phenylketonuri'' DK164885A (da)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
US60025484A 1984-04-13 1984-04-13

Publications (2)

Publication Number Publication Date
DK164885D0 DK164885D0 (da) 1985-04-12
DK164885A true DK164885A (da) 1985-10-14

Family

ID=24402900

Family Applications (1)

Application Number Title Priority Date Filing Date
DK164885A DK164885A (da) 1984-04-13 1985-04-12 ''humane phenylalaninhydroxylase cdna kloner, humane chromosomale phenylalaninhydroxylasegenkloner og fragmenter deraf, fremgangsmaade til fremstilling deraf og deres anvendelse ved diagnosticering af klassisk phenylketonuri''

Country Status (8)

Country Link
EP (1) EP0161788A1 (da)
JP (1) JPS6131089A (da)
AU (1) AU4079785A (da)
DK (1) DK164885A (da)
FI (1) FI851483A7 (da)
IL (1) IL74761A0 (da)
NO (1) NO851468L (da)
PT (1) PT80256B (da)

Families Citing this family (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US4965190A (en) * 1986-07-31 1990-10-23 Howard Hughes Medical Institute Methods for the identification of mutations in the human phenylalanine hydroxylase gene using DNA probes
US5773278A (en) * 1991-05-03 1998-06-30 Mount Sinai Medical Center Acid sphingomyelinase gene
SI3998078T1 (sl) 2009-08-28 2026-02-27 Genzyme Corporation Encimsko nadomestno zdravljenje z naraščajočim odmerkom za zdravljenje pomanjkanja kisle sfingomielinaze
US20190256867A1 (en) 2018-02-01 2019-08-22 Homology Medicines, Inc. Adeno-associated virus compositions for restoring pah gene function and methods of use thereof
US10610606B2 (en) 2018-02-01 2020-04-07 Homology Medicines, Inc. Adeno-associated virus compositions for PAH gene transfer and methods of use thereof
TW202140791A (zh) 2020-01-13 2021-11-01 美商霍蒙拉奇醫藥公司 治療苯酮尿症之方法
TW202208632A (zh) 2020-05-27 2022-03-01 美商同源醫藥公司 用於恢復ｐａｈ基因功能的腺相關病毒組成物及其使用方法

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
IL71505A0 (en) * 1983-04-14 1984-07-31 Hughes Howard Med Inst Phenylalanine hydroxylase cdna clones,their production and their use in the diagnosis of classical phenylketonuria

Also Published As

Publication number Publication date
NO851468L (no) 1985-10-14
PT80256A (en) 1985-05-01
AU4079785A (en) 1985-10-17
FI851483L (fi) 1985-10-14
IL74761A0 (en) 1985-06-30
FI851483A0 (fi) 1985-04-12
PT80256B (en) 1986-11-20
EP0161788A1 (en) 1985-11-21
FI851483A7 (fi) 1985-10-14
DK164885D0 (da) 1985-04-12
JPS6131089A (ja) 1986-02-13

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