Matches in Nanopublications for { ?s ?p "[Although ATP7A mutations are typically associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome, we demonstrate here that certain missense mutations at this locus can cause a syndrome restricted to progressive distal motor neuropathy without overt signs of systemic copper deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP257128.RAQx338UBUXf-SEOtth3FEDTYO8nqRvIW_6X1_4W1Q94g130_assertion description "[Although ATP7A mutations are typically associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome, we demonstrate here that certain missense mutations at this locus can cause a syndrome restricted to progressive distal motor neuropathy without overt signs of systemic copper deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP257128.RAQx338UBUXf-SEOtth3FEDTYO8nqRvIW_6X1_4W1Q94g130_provenance.
- assertion description "[Although ATP7A mutations are typically associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome, we demonstrate here that certain missense mutations at this locus can cause a syndrome restricted to progressive distal motor neuropathy without overt signs of systemic copper deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[Although ATP7A mutations are typically associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome, we demonstrate here that certain missense mutations at this locus can cause a syndrome restricted to progressive distal motor neuropathy without overt signs of systemic copper deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[Although ATP7A mutations are typically associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome, we demonstrate here that certain missense mutations at this locus can cause a syndrome restricted to progressive distal motor neuropathy without overt signs of systemic copper deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP886456.RA4q7Mp48toKkxpn7uPQgtBczwsLJLQLnXVt7AwCnpUzI130_assertion description "[Although ATP7A mutations are typically associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome, we demonstrate here that certain missense mutations at this locus can cause a syndrome restricted to progressive distal motor neuropathy without overt signs of systemic copper deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP886456.RA4q7Mp48toKkxpn7uPQgtBczwsLJLQLnXVt7AwCnpUzI130_provenance.
- NP539302.RAMcDuIfw4QMElKIet1TGNL955uYqKiCxgsyrO7giSYzY130_assertion description "[Although ATP7A mutations are typically associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome, we demonstrate here that certain missense mutations at this locus can cause a syndrome restricted to progressive distal motor neuropathy without overt signs of systemic copper deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP539302.RAMcDuIfw4QMElKIet1TGNL955uYqKiCxgsyrO7giSYzY130_provenance.
- NP794839.RAga7VY_AMDYVgicMyRvRFjc95WEnPT5bOG22-_q6pncQ130_assertion description "[Although ATP7A mutations are typically associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome, we demonstrate here that certain missense mutations at this locus can cause a syndrome restricted to progressive distal motor neuropathy without overt signs of systemic copper deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP794839.RAga7VY_AMDYVgicMyRvRFjc95WEnPT5bOG22-_q6pncQ130_provenance.
- NP794842.RAEjm58qUrv9O-6yng-plqTGCH8HNc32Y0qF5Fg25TMd8130_assertion description "[Although ATP7A mutations are typically associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome, we demonstrate here that certain missense mutations at this locus can cause a syndrome restricted to progressive distal motor neuropathy without overt signs of systemic copper deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP794842.RAEjm58qUrv9O-6yng-plqTGCH8HNc32Y0qF5Fg25TMd8130_provenance.