Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online.

Human mutation

Volumn 13, Issue 2, 1999, Pages 171-172

  Taillandier, A ^a   Zurutuza, L ^a   Muller, F ^a   Simon Bouy, B ^a   Serre, J L ^a   Bird, L ^a   Brenner, R ^a   Boute, O ^a   Cousin, J ^a   Gaillard, D ^a   Heidemann, P H ^a   Steinmann, B ^a   Wallot, M ^a   Mornet, E ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE;

AMINO ACID SUBSTITUTION; ARTICLE; ENZYMOLOGY; GENETICS; HUMAN; HYPOPHOSPHATASIA; MISSENSE MUTATION; MUTATION;

ALKALINE PHOSPHATASE; AMINO ACID SUBSTITUTION; HUMANS; HYPOPHOSPHATASIA; MUTATION; MUTATION, MISSENSE;

EID: 0032604016     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:2<171::AID-HUMU16>3.0.CO;2-T     Document Type: Article

References (0)