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Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis.

Shortening of the tubular bones of the hands and feet with cone shaped epiphyses is known as peripheral dysostosis and is common to several syndromes including acrodysostosis and Albright's hereditary osteodystrophy (AHO). The underlying defect in AHO is known to be a reduction in bioactivity o...

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Detalhes bibliográficos
Main Authors: Wilson, L C, Oude Luttikhuis, M E, Baraitser, M, Kingston, H M, Trembath, R C
Formato: Artigo
Idioma:Inglês
Publicado em: 1997
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050867/
https://ncbi.nlm.nih.gov/pubmed/9039990
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