Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.

M A Kroos; M Van der Kraan; O P Van Diggelen; W J Kleijer; A J Reuser; M J Van den Boogaard; M G Ausems; H K Ploos van Amstel; L Poenaru; M Nicolino

doi:10.1136/jmg.32.10.836-a

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Research Article

Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.

https://doi.org/10.1136/jmg.32.10.836-a

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Frequency of mutations for glycogen storage disease type II in different populations: the Δ525T and Δexon 18 mutations are not generally “common” in white populations

ROCHELLE HIRSCHHORN MARYANN L HUIE
Journal of Medical Genetics 1999; 36 85-86 Published Online First: 01 Jan 1999. doi: 10.1136/jmg.36.1.85

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