Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

BACKGROUND: Mild hypophosphatasia (HPP) phenotype may result from ALPL gene mutations exhibiting residual alkaline phosphatase activity or from severe heterozygous mutations exhibiting a dominant negative effect. In order to determine the cause of our failure to detect a second mutation by sequencin...

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Detalles Bibliográficos
Autores principales: Fauvert, Delphine, Brun-Heath, Isabelle, Lia-Baldini, Anne-Sophie, Bellazi, Linda, Taillandier, Agnès, Serre, Jean-Louis, de Mazancourt, Philippe, Mornet, Etienne
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2702372/
https://www.ncbi.nlm.nih.gov/pubmed/19500388
http://dx.doi.org/10.1186/1471-2350-10-51

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2702372/
https://www.ncbi.nlm.nih.gov/pubmed/19500388
http://dx.doi.org/10.1186/1471-2350-10-51

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