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Items: 4

1.
Association of HLA-linked hemochromatosis with idiopathic refractory sideroblastic anemia.
G E Cartwright, C Q Edwards, M H Skolnick, D B Amos
J Clin Invest. 1980 May; 65(5): 989–992. doi: 10.1172/JCI109785
PMCID:
PMC371428
SummaryPage BrowsePDF–513K
2.
A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder
Eileen G. Daniels, Marielle Alders, Marco Lezzerini, Andrew McDonald, Marjolein Peters, Taco W. Kuijpers, Phillis Lakeman, Riekelt H. Houtkooper, Alyson W. MacInnes
Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004457. doi: 10.1101/mcs.a004457
PMCID:
PMC6913148
ArticlePDF–5.6M
3.
Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis.
P E Jardine, P D Cotter, S A Johnson, E J Fitzsimons, L Tyfield, P W Lunt, D F Bishop
J Med Genet. 1994 Mar; 31(3): 213–218. doi: 10.1136/jmg.31.3.213
PMCID:
PMC1049745
SummaryPage BrowsePDF–1.1M
4.
mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome
Mohammad Taghi Arzanian, Aziz Eghbali, Parvaneh Karimzade, Mitra Ahmadi, Massoud Houshmand, Nima Rezaei
Iran J Pediatr. 2010 Mar; 20(1): 107–112.
PMCID:
PMC3445998
ArticlePDF–231K

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