Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria
Copyright 1998 Academic Press..
We used single-strand conformational polymorphism and nucleotide sequencing to characterize defective cystathionine beta-synthase gene alleles in 18 independent Irish patients with homocystinuria. Six mutations were detected, three of which have been reported previously and three of which were novel. The novel mutations include T302C (L101P), C684G (N228K), and G1063C (A354P). Of the three, only T302C (L101P) was somewhat prevalent, being found in 3 of 37 independent alleles.
| Medienart: |
Artikel |
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| Erscheinungsjahr: |
1998 |
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| Erschienen: |
1998 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:65 |
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| Enthalten in: |
Molecular genetics and metabolism - 65(1998), 4 vom: 01. Dez., Seite 298-302 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Gallagher, P M [VerfasserIn] |
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| Themen: |
Cystathionine beta-Synthase |
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| Anmerkungen: |
Date Completed 16.02.1999 Date Revised 15.11.2006 published: Print Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM098242695 |
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| 100 | 1 | |a Gallagher, P M |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria |
| 264 | 1 | |c 1998 | |
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| 500 | |a Date Completed 16.02.1999 | ||
| 500 | |a Date Revised 15.11.2006 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright 1998 Academic Press. | ||
| 520 | |a We used single-strand conformational polymorphism and nucleotide sequencing to characterize defective cystathionine beta-synthase gene alleles in 18 independent Irish patients with homocystinuria. Six mutations were detected, three of which have been reported previously and three of which were novel. The novel mutations include T302C (L101P), C684G (N228K), and G1063C (A354P). Of the three, only T302C (L101P) was somewhat prevalent, being found in 3 of 37 independent alleles | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 7 | |a Cystathionine beta-Synthase |2 NLM | |
| 650 | 7 | |a EC 4.2.1.22 |2 NLM | |
| 700 | 1 | |a Naughten, E |e verfasserin |4 aut | |
| 700 | 1 | |a Hanson, N Q |e verfasserin |4 aut | |
| 700 | 1 | |a Schwichtenberg, K |e verfasserin |4 aut | |
| 700 | 1 | |a Bignell, M |e verfasserin |4 aut | |
| 700 | 1 | |a Yuan, M |e verfasserin |4 aut | |
| 700 | 1 | |a Ward, P |e verfasserin |4 aut | |
| 700 | 1 | |a Yap, S |e verfasserin |4 aut | |
| 700 | 1 | |a Whitehead, A S |e verfasserin |4 aut | |
| 700 | 1 | |a Tsai, M Y |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Molecular genetics and metabolism |d 1998 |g 65(1998), 4 vom: 01. Dez., Seite 298-302 |w (DE-627)NLM094798370 |x 1096-7206 |7 nnns |
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