Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene

Journal of Medical Genetics

Volumn 40, Issue 8, 2003, Pages 605-609

  Herasse, M ^a   Spentchian, M ^b   Taillandier, A ^a   Keppler Noreuil, K ^c   Fliorito, A N M ^d   Bergoffen, J ^d   Wallerstein, R ^e   Muti, C ^a   Simon Bouy, B ^a   Mornet, E ^a  

^a LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^b CENTRE HOSPITALIER DE VERSAILLES   (France)

^c UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^d KAISER PERMANENTE   (United States)

^e HACKENSACK UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE;

ALKALINE PHOSPHATASE BLOOD LEVEL; ALLELE; ARTICLE; BONE MINERALIZATION; CASE REPORT; CHILD; DOWN SYNDROME; GENE EXPRESSION; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPOPHOSPHATASIA; MALE; MOLECULAR GENETICS; ODONTOHYPOPHOSPHATASIA; PRIORITY JOURNAL;

EID: 0041326321     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.40.8.605     Document Type: Article

References (36)

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