Genomic organisation of the human phosphomannose-isomerase (PMI) gene and mutation analysis in patients with the carbohydrate-deficient glycoprotein syndrome type 1b (CDGS1b)

Schollen, E; Dorland, L; De Klerk, JBC; Van Diggelen, OP; Matthijs, Gert

American Journal of Human Genetics

Genomic organisation of the human phosphomannose-isomerase (PMI) gene and mutation analysis in patients with the carbohydrate-deficient glycoprotein syndrome type 1b (CDGS1b)

Author:

Schollen, E

Dorland, L ; De Klerk, JBC ; Van Diggelen, OP ; Matthijs, Gert

Keywords:

Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, 06 Biological Sciences, 11 Medical and Health Sciences, 31 Biological sciences, 32 Biomedical and clinical sciences, 42 Health sciences

American Journal of Human Genetics Genomic organisation of the human phosphomannose-isomerase (PMI) gene and mutation analysis in patients with the carbohydrate-deficient glycoprotein syndrome type 1b (CDGS1b)

Author:

Keywords:

American Journal of Human Genetics

Genomic organisation of the human phosphomannose-isomerase (PMI) gene and mutation analysis in patients with the carbohydrate-deficient glycoprotein syndrome type 1b (CDGS1b)