Clinical case seminar: Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene

Journal of Clinical Endocrinology and Metabolism

Volumn 90, Issue 4, 2005, Pages 2436-2439

  Taillandier, A ^a   Sallinen, S L ^b   Brun Heath, I ^a   De Mazancourt, P ^a   Serre, J L ^a   Mornet, E ^a  

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

^b TAMPERE UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; ALKALINE PHOSPHATASE BONE ISOENZYME; PHOSPHATE; PHOSPHOETHANOLAMINE;

ADOLESCENT; ALKALINE PHOSPHATASE BLOOD LEVEL; ANTERIOR FONTANEL; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONFERENCE PAPER; DNA POLYMORPHISM; ENZYME ACTIVITY; FUNNEL CHEST; GENE SEQUENCE; GROWTH RETARDATION; HETEROZYGOSITY; HUMAN; HYPOPHOSPHATASIA; IN VITRO STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATERNITY; PATHOLOGIC FRACTURE; PRIORITY JOURNAL; RICKETS; SITE DIRECTED MUTAGENESIS; URINE LEVEL; ARTICLE; GENETICS;

ADOLESCENT; ALKALINE PHOSPHATASE; HUMANS; HYPOPHOSPHATASIA; MALE; MUTATION, MISSENSE;

EID: 19044367743     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-1456     Document Type: Conference Paper

References (28)

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