A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.

Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. Clinical severity is variable, ranging from death in utero (due to severe rickets) to pathologic fractures first...

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Cyhoeddwyd yn:	Proc Natl Acad Sci U S A
Prif Awduron:	Weiss, M J, Cole, D E, Ray, K, Whyte, M P, Lafferty, M A, Mulivor, R A, Harris, H
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	National Academy of Sciences 1988
Pynciau:	Research Article
Mynediad Ar-lein:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC282253/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3174660/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.85.20.7666
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