PT80256B - Process for the production of human phenylalanine hydroxylase cdna clones human chromosomal phenylalanine hydroxylase gene clones and fragments thereof and methods of use in diagnosing classical phenylketonuria - Google Patents

Process for the production of human phenylalanine hydroxylase cdna clones human chromosomal phenylalanine hydroxylase gene clones and fragments thereof and methods of use in diagnosing classical phenylketonuria

Info

Publication number
PT80256B
PT80256B PT80256A PT8025685A PT80256B PT 80256 B PT80256 B PT 80256B PT 80256 A PT80256 A PT 80256A PT 8025685 A PT8025685 A PT 8025685A PT 80256 B PT80256 B PT 80256B
Authority
PT
Portugal
Prior art keywords
phenylalanine hydroxylase
human
clones
diagnosing
fragments
Prior art date
Application number
PT80256A
Other languages
English (en)
Other versions
PT80256A (en
Original Assignee
Hughes Howard Med Inst
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Hughes Howard Med Inst filed Critical Hughes Howard Med Inst
Publication of PT80256A publication Critical patent/PT80256A/pt
Publication of PT80256B publication Critical patent/PT80256B/pt

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Classifications

    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N9/00Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/0004Oxidoreductases (1.)
    • C12N9/0071Oxidoreductases (1.) acting on paired donors with incorporation of molecular oxygen (1.14)
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12YENZYMES
    • C12Y114/00Oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (1.14)
    • C12Y114/16Oxidoreductases 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)
    • C12Y114/16001Phenylalanine 4-monooxygenase (1.14.16.1)
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/172Haplotypes

Landscapes

  • 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)
PT80256A 1984-04-13 1985-04-10 Process for the production of human phenylalanine hydroxylase cdna clones human chromosomal phenylalanine hydroxylase gene clones and fragments thereof and methods of use in diagnosing classical phenylketonuria PT80256B (en)

Applications Claiming Priority (1)

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

Publications (2)

Publication Number Publication Date
PT80256A PT80256A (en) 1985-05-01
PT80256B true PT80256B (en) 1986-11-20

Family

ID=24402900

Family Applications (1)

Application Number Title Priority Date Filing Date
PT80256A PT80256B (en) 1984-04-13 1985-04-10 Process for the production of human phenylalanine hydroxylase cdna clones human chromosomal phenylalanine hydroxylase gene clones and fragments thereof and methods of use in diagnosing classical phenylketonuria

Country Status (8)

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

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
DK164885A (da) 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
EP0161788A1 (en) 1985-11-21
FI851483A7 (fi) 1985-10-14
DK164885D0 (da) 1985-04-12
JPS6131089A (ja) 1986-02-13

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