Genetic heterogeneity of glycogen storage disease type Ia in France: A study of 48 patients
Forty‐eight patients with glycogen storage disease type Ia (GSD Ia) were studied. Using a combination of single‐strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 93/96 mutant alleles, comprising 23 different mutations in th...
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| Veröffentlicht in: | Human mutation 2000-11, Vol.16 (5), p.444-444 |
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| creator | Trioche, Pascale Francoual, Jeanne Chalas, Jacqueline Capel, Liliane Lindenbaum, Albert Odièvre, Michel Labrune, Philippe |
| description | Forty‐eight patients with glycogen storage disease type Ia (GSD Ia) were studied. Using a combination of single‐strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 93/96 mutant alleles, comprising 23 different mutations in the glucose‐6‐phosphatase gene (G6PC). Among these, 7 are novel mutations of G6PC: M5R, T111I, A241T, C270R, F322L, and two deletions, 793delG and 872delC, resulting in the same mutation at the amino acid level, fs300Ter (300X). © 2000 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/1098-1004(200011)16:5<444::AID-HUMU10>3.0.CO;2-F |
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Using a combination of single‐strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 93/96 mutant alleles, comprising 23 different mutations in the glucose‐6‐phosphatase gene (G6PC). Among these, 7 are novel mutations of G6PC: M5R, T111I, A241T, C270R, F322L, and two deletions, 793delG and 872delC, resulting in the same mutation at the amino acid level, fs300Ter (300X). © 2000 Wiley‐Liss, Inc.</description><identifier>ISSN: 1059-7794</identifier><identifier>EISSN: 1098-1004</identifier><identifier>DOI: 10.1002/1098-1004(200011)16:5<444::AID-HUMU10>3.0.CO;2-F</identifier><identifier>PMID: 11058903</identifier><language>eng</language><publisher>New York: John Wiley & Sons, Inc</publisher><subject>Alleles ; France - epidemiology ; French ; G6PC ; Genetic Heterogeneity ; glucose-6-phosphatase ; Glucose-6-Phosphatase - genetics ; Glucose-6-Phosphatase - metabolism ; Glycogen Storage Disease Type I - enzymology ; Glycogen Storage Disease Type I - epidemiology ; Glycogen Storage Disease Type I - genetics ; glycogen storage disease type Ia ; Humans ; Liver - enzymology ; Mutation - genetics ; Prevalence ; Sequence Deletion - genetics</subject><ispartof>Human mutation, 2000-11, Vol.16 (5), p.444-444</ispartof><rights>Copyright © 2000 Wiley‐Liss, Inc.</rights><rights>Copyright 2000 Wiley-Liss, Inc.</rights><rights>Copyright © 2000 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2F1098-1004%28200011%2916%3A5%3C444%3A%3AAID-HUMU10%3E3.0.CO%3B2-F$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2F1098-1004%28200011%2916%3A5%3C444%3A%3AAID-HUMU10%3E3.0.CO%3B2-F$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27903,27904,45552,45553</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11058903$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Trioche, Pascale</creatorcontrib><creatorcontrib>Francoual, Jeanne</creatorcontrib><creatorcontrib>Chalas, Jacqueline</creatorcontrib><creatorcontrib>Capel, Liliane</creatorcontrib><creatorcontrib>Lindenbaum, Albert</creatorcontrib><creatorcontrib>Odièvre, Michel</creatorcontrib><creatorcontrib>Labrune, Philippe</creatorcontrib><title>Genetic heterogeneity of glycogen storage disease type Ia in France: A study of 48 patients</title><title>Human mutation</title><addtitle>Hum. Mutat</addtitle><description>Forty‐eight patients with glycogen storage disease type Ia (GSD Ia) were studied. Using a combination of single‐strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 93/96 mutant alleles, comprising 23 different mutations in the glucose‐6‐phosphatase gene (G6PC). 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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Alleles France - epidemiology French G6PC Genetic Heterogeneity glucose-6-phosphatase Glucose-6-Phosphatase - genetics Glucose-6-Phosphatase - metabolism Glycogen Storage Disease Type I - enzymology Glycogen Storage Disease Type I - epidemiology Glycogen Storage Disease Type I - genetics glycogen storage disease type Ia Humans Liver - enzymology Mutation - genetics Prevalence Sequence Deletion - genetics |
| title | Genetic heterogeneity of glycogen storage disease type Ia in France: A study of 48 patients |
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