Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation

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Bibliographic Details
Published in:American journal of human genetics 1974-05, Vol.26 (3), p.360-368
Main Authors: Migeon, B R, Huijing, F
Format: Article
Language:English
Subjects:
Clone Cells
Female
Fibroblasts - enzymology
Galactosidases - metabolism
Glycogen Storage Disease - enzymology
Glycogen Storage Disease - genetics
Heterozygote
Humans
Male
Metabolism, Inborn Errors - enzymology
Mutation
Phenotype
Phosphorylase Kinase - metabolism
Sex Chromosomes
Skin - cytology
Online Access:Get full text
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ISSN:0002-9297
1537-6605