Non-random distribution of mutations in the PHEX gene, end under-detected missense mutations at non-conserved residues

European Journal of Human Genetics

Volumn 7, Issue 5, 1999, Pages 615-619

  Filisetti, D ^a   Ostermann, G ^a   Von Bredow, M ^a   Strom, T ^a   Filler, G ^a   Ehrich, J ^a   Pannetier, S ^a   Garnier, J M ^a   Rowe, P ^a   Francis, F ^a   Julienne, A ^a   Hanauer, A ^a   Econs, M J ^a   Oudet, C ^a  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

HYP phenotype; Mutation distribution; Vitamin D endopeptidase; X linked hypophosphataemia

Indexed keywords

PROTEINASE;

AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; FEMALE; GENE INSERTION; GENE MUTATION; HUMAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; VITAMIN D RESISTANT RICKETS;

EID: 0032794360     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200341     Document Type: Article

References (18)