Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations

Molecular Genetics and Metabolism

Volumn 84, Issue 3 SPEC. ISS., 2005, Pages 273-277

  Brun Heath, Isabelle ^a   Taillandier, Agnes ^b   Serre, Jean Louis ^a   Mornet, Etienne ^a,b  

^a INRA Institut National de la Recherche Agronomique   (France)

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

Author keywords

Alkaline phosphatase; Calcium binding domain; Crown domain; Genotype phenotype correlation; Hypophosphatasia

Indexed keywords

ALKALINE PHOSPHATASE; CALCIUM;

ARTICLE; BINDING SITE; CALCIUM BINDING; CORRELATION ANALYSIS; ENZYME ACTIVITY; GENE FUNCTION; GENE MUTATION; GENOTYPE; HUMAN; HYPOPHOSPHATASIA; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; VERTEBRATE;

EID: 13444302348     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.11.003     Document Type: Article

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