Associated Papers
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants
Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario.
Ferrand A et al.
Jimd Reports, 2015
Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant.
Chery C et al.
Biochimie, 2013
Genetic defects in folate and cobalamin pathways affecting the brain.
Kirsch SH et al.
Clinical Chemistry and Laboratory Medicine, 2013
Complex patterns of chromosome 11 aberrations in myeloid malignancies target CBL, MLL, DDB1 and LMO2.
Klampfl T et al.
Plos One, 2013
24147083 (PubMed )
Supplement: pone.0077819.s003.xls › Sheet1
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.
Tanner SM et al.
Orphanet Journal of Rare Diseases, 2012
Vitamin B12 deficiency in a 15-year old boy due to mutations in the intrinsic factor gene, GIF.
Overgaard UM et al.
British Journal of Haematology, 2010
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