PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia (Q33858620)
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| Language | Label | Description | Also known as |
|---|---|---|---|
| English | PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia |
scientific article |
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PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia (English)
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James R Lupski
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Tore G Abrahamsen
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Richard A Gibbs
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Donna M Muzny
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Shalini N Jhangiani
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Ankita Patel
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Eric A Boerwinkle
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Gen Nishimura
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Arild Rønnestad
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Hanne S Sorte
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Asbjørg Stray-Pedersen
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Paul H Backe
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Lars Mørkrid
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Niti Y Chokshi
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Hans Christian Erichsen
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Katja B P Elgstøen
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Marcus Krüger
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Kimiyo M Raymond
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Ghadir S Sasa
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Robert A Krance
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Caridad A Martinez
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Shirley M Abraham
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Lisa R Forbes
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Else Merckoll
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Jostein Westvik
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Cecilie F Rustad
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Liv T Osnes
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Torstein Egeland
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Olaug K Rødningen
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Christine R Beck
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Baylor-Johns Hopkins Center for Mendelian Genomics
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Ekkehart Lausch
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I Celine Hanson
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Identifiers
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