A new mechanism of dominance in hypophosphatasia: The mutated protein can disturb the cell localization of the wild-type protein

Human Genetics

Volumn 123, Issue 4, 2008, Pages 429-432

  Lia Baldini, A S ^a,b   Brun Heath, Isabelle ^b,f   Carrion, C ^c   Simon Bouy, B ^d   Serre, J L ^b   Nunes, M E ^e   Mornet, E ^b  

^a LIMOGES UNIVERSITY HOSPITAL   (France)

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

^c Institut de Neurologie Tropicale   (France)

^d CENTRE HOSPITALIER DE VERSAILLES   (France)

^e OHIO STATE UNIVERSITY   (United States)

^f CENTRE HOSPITALIER INTERCOMMUNAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; CYAN FLUORESCENT PROTEIN; TISSUE NONSPECIFIC ALKALINE PHOSPHATASE; UNCLASSIFIED DRUG; YELLOW FLUORESCENT PROTEIN;

ANIMAL CELL; ARTICLE; CELLULAR DISTRIBUTION; CONFOCAL MICROSCOPY; CONTROLLED STUDY; CYTOPLASM; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSFECTION; HYPOPHOSPHATASIA; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; PROTEIN FUNCTION; SEQUENCE ANALYSIS; WILD TYPE;

ALKALINE PHOSPHATASE; AMINO ACID SUBSTITUTION; ANIMALS; BACTERIAL PROTEINS; CERCOPITHECUS AETHIOPS; COS CELLS; FEMALE; GENES, DOMINANT; GREEN FLUORESCENT PROTEINS; HETEROZYGOTE; HUMANS; HYPOPHOSPHATASIA; INFANT; INFANT, NEWBORN; LUMINESCENT PROTEINS; MALE; MICROSCOPY, FLUORESCENCE; MODELS, GENETIC; MUTATION, MISSENSE; RECOMBINANT FUSION PROTEINS; SUBCELLULAR FRACTIONS; TRANSFECTION;

EID: 42149118918     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-008-0480-1     Document Type: Article

References (9)

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