Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

BMC Medical Genetics

Volumn 10, Issue , 2009, Pages

  Fauvert, Delphine ^a,b   Brun Heath, Isabelle ^a   Lia Baldini, Anne Sophie ^c,d   Bellazi, Linda ^a   Taillandier, Agnès ^b   Serre, Jean Louis ^a   de Mazancourt, Philippe ^a   Mornet, Etienne ^a,b  

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

^b CENTRE HOSPITALIER DE VERSAILLES   (France)

^c Institut Universitaire de Technologies du Limousin   (France)

^d LIMOGES UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; GENE PRODUCT; PROTEIN ALPL; UNCLASSIFIED DRUG; CARRIER PROTEIN; TNAP PROTEIN, HUMAN;

ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; HAPLOTYPE; HETEROZYGOSITY; HUMAN; HYPOPHOSPHATASIA; INTRON; MAJOR CLINICAL STUDY; MALE; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS; ADULT; CHEMICAL STRUCTURE; CHEMISTRY; CHI SQUARE DISTRIBUTION; CHILD; DOMINANT GENE; GENETICS; GENOTYPE; HETEROZYGOTE; INFANT; MUTATION; PHENOTYPE; PRESCHOOL CHILD; PROTEIN TERTIARY STRUCTURE;

ADULT; ALKALINE PHOSPHATASE; CARRIER PROTEINS; CHI-SQUARE DISTRIBUTION; CHILD; CHILD, PRESCHOOL; EXONS; GENES, DOMINANT; GENOTYPE; HETEROZYGOTE; HUMANS; HYPOPHOSPHATASIA; INFANT; MODELS, MOLECULAR; MUTAGENESIS, SITE-DIRECTED; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN STRUCTURE, TERTIARY;

EID: 67649868096     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-10-51     Document Type: Article

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