Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers.

Linkage analysis was performed on data from Manitoba Mennonite families identified by a proband with infantile hypophosphatasia (HOPS), an autosomal recessive disorder characterized by defective skeletal mineralization. Southern blot analysis of Msp-I-digested DNA from HOPS nuclear families probed w...

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Autors principals: Greenberg, C R, Evans, J A, McKendry-Smith, S, Redekopp, S, Haworth, J C, Mulivor, R, Chodirker, B N
Format: Artigo
Idioma:Inglês
Publicat: 1990
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684978/
https://ncbi.nlm.nih.gov/pubmed/1689104
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