Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.

Hypophosphatasia is a heritable form of rickets/osteomalacia with extremely variable clinical expression. Severe forms are inherited in an autosomal recessive fashion; the mode of transmission of mild forms is uncertain. The biochemical hallmark of hypophosphatasia is deficient activity of the tissu...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Henthorn, P S, Raducha, M, Fedde, K N, Lafferty, M A, Whyte, M P
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1992
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC50246/
https://ncbi.nlm.nih.gov/pubmed/1409720
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