Literature DB >> 8490656

Are X-linked cutis laxa and Menkes disease allelic?

B Levinson, J Gitschier, C Vulpe, S Whitney, S Yang, S Packman.   

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Year:  1993        PMID： 8490656     DOI： 10.1038/ng0193-6

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  7 in total

1.  A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.

Authors:  S L Dagenais; A N Adam; J W Innis; T W Glover
Journal:  Am J Hum Genet       Date:  2001-06-26       Impact factor: 11.025

Review 2.  Menkes disease.

Authors:  Zeynep Tümer; Lisbeth B Møller
Journal:  Eur J Hum Genet       Date:  2009-11-04       Impact factor: 4.246

Review 3.  Menkes disease: recent advances and new aspects.

Authors:  Z Tümer; N Horn
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

4.  Diverse mutations in patients with Menkes disease often lead to exon skipping.

Authors:  S Das; B Levinson; S Whitney; C Vulpe; S Packman; J Gitschier
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025

5.  Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.

Authors:  A Colige; A L Sieron; S W Li; U Schwarze; E Petty; W Wertelecki; W Wilcox; D Krakow; D H Cohn; W Reardon; P H Byers; C M Lapière; D J Prockop; B V Nusgens
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

6.  Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

Authors:  S Das; B Levinson; C Vulpe; S Whitney; J Gitschier; S Packman
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

Review 7.  Medicinal chemistry of acridine and its analogues.

Authors:  Parteek Prasher; Mousmee Sharma
Journal:  Medchemcomm       Date:  2018-08-14       Impact factor: 3.597
  7 in total

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