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Asymptomatic Isolated Human Glycerol Kinase Deficiency Associated with Splice-Site Mutations and Nonsense-Mediated Decay of Mutant RNA
Isolated glycerol kinase deficiency (GKD) is an X-linked inborn error of metabolism that is either symptomatic or asymptomatic. GKD is due to deletions of, or mutations within, the GK gene, and there is no genoty...
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Adrenal Hypoplasia Congenita and Male Pseudohermaphroditism: New Syndromic Association Association Additional Sex Determining Gene(s)
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Glycerol Kinase (GK) Point Mutations in Patients with Isolated GK Deficiency: Possible Genotype-Phenotype Relationships
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Xp22.1-p21.3 Mental Retardation: Identification of CNS-Expressed Genes in Patients' Deletions • 715
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Glycerol Kinase Missense Mutations Provide Structure-Function But Not Genotype-Phenotype Insights. † 641
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BACTERIAL SPECIES IDENTIFICATION AFTER AMPLIFICATION WITH A UNIVERSAL PRIMER PAIR. † 1059