Literature DB >> 906767

Urinary mucopolysaccharides in acheiropodia.

P A Mourão, S P Toledo, C P Dietrich.   

Abstract

Urinary mucopolysaccharides from three patients with acheiropodia were qualitatively and quantitatively analysed by agar gel electrophoresis coupled with enzymatic degradation. Although no abnormal pattern was characterized, eventual metabolic dysfunction detected only in bone/cartilage tissues could not be ruled out.

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Year:  1977        PMID: 906767     DOI: 10.1017/s0001566000010266

Source DB:  PubMed          Journal:  Acta Genet Med Gemellol (Roma)        ISSN: 0001-5660


  1 in total

1.  Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene.

Authors:  P Ianakiev; M J Daly; S P Toledo; M G Cavalcanti; J C Neto; E L Silveira; A Freire-Maia; P Heutink; M W Kilpatrick; P Tsipouras
Journal:  Am J Hum Genet       Date:  2000-11-22       Impact factor: 11.025

  1 in total

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