Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib) Hum Mutat
[ncbi.nlm.nih.gov]
DNA from patient 1 has further been analyzed to identify mutations by direct gene sequencing in the context of ALG8-CDG, DPAGT1-CDG, and SRD5A3-CDG (HGNC: 23161, 2995, and
[ncbi.nlm.nih.gov]