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 phenylketonuriaInfo
- 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
Links
Classifications
-
- 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
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)
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)
| 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)
| 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 |
-
1985
- 1985-03-29 IL IL74761A patent/IL74761A0/xx unknown
- 1985-04-03 AU AU40797/85A patent/AU4079785A/en not_active Abandoned
- 1985-04-09 EP EP85302481A patent/EP0161788A1/en not_active Withdrawn
- 1985-04-10 PT PT80256A patent/PT80256B/pt unknown
- 1985-04-12 FI FI851483A patent/FI851483A7/fi not_active Application Discontinuation
- 1985-04-12 NO NO851468A patent/NO851468L/no unknown
- 1985-04-12 DK DK164885A patent/DK164885A/da not_active IP Right Cessation
- 1985-04-12 JP JP7684985A patent/JPS6131089A/ja active Pending
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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