Abnormal Development of Neural Stem Cell Niche in the Dentate Gyrus of Menkes Disease. [PDF]
Int J Stem Cells, 2022 Cho SK +8 more
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The loss of stability of a naturally occurring ATP7A mutant is the cause of Menkes disease
, 2005 Lucia Banci +5 more
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Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease. [PDF]
Front Genet, 2022 Zhi X +8 more
europepmc +1 more source
Menkes X linked disease: two clonal cell populations in heterozygotes. [PDF]
, 1980 Nina Horn, P Mooy, Valerie McGuire
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Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome [PDF]
, 2000 Lisbeth Birk Møller +8 more
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Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome [PDF]
, 2007 Anthony Donsante +6 more
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1127 64Cu UPTAKE IN CULTURED, X-CHROMOSOME LINKED COPPER MALABSORPTION (MENKES' DISEASE) CELLS [PDF]
, 1978 Jacqueline A. French +3 more
openalex +1 more source