Partial deficiency of red cell 6-phosphogluconate dehydrogenase: a family study

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Related Experiment Videos

Partial deficiency of red cell 6-phosphogluconate dehydrogenase: a family study

Related Concept Videos

[Transverse reductional anomaly and atypical fibrodysplasia ossificans progressiva: A case diagnosed late].

WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease.

Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis.

The osteopontin gene +1239A/C single nucleotide polymorphism is associated with type 1 diabetes mellitus in the Italian population.

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Nail-patella syndrome and renal involvement. Description of three cases and literature review.

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Related Experiment Videos

Partial deficiency of red cell 6-phosphogluconate dehydrogenase: a family study

Abstract:

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