Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.

Human mutation

Volumn 15, Issue 3, 2000, Pages 293-

  Taillandier, A ^a   Cozien, E ^a   Muller, F ^a   Merrien, Y ^a   Bonnin, E ^a   Fribourg, C ^a   Simon Bouy, B ^a   Serre, J L ^a   Bieth, E ^a   Brenner, R ^a   Cordier, M P ^a   De Bie, S ^a   Fellmann, F ^a   Freisinger, P ^a   Hesse, V ^a   Hennekam, R C ^a   Josifova, D ^a   Kerzin Storrar, L ^a   Leporrier, N ^a   Zabot, M T ^a   Mornet, E ^a   more..

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

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE;

ARTICLE; CHILD; ENZYMOLOGY; FEMALE; GENETICS; HUMAN; HYPOPHOSPHATASIA; INFANT; MALE; MISSENSE MUTATION; MUTATION; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALKALINE PHOSPHATASE; CHILD; FEMALE; HUMANS; HYPOPHOSPHATASIA; INFANT; MALE; MUTATION; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0034145806     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200003)15:3<293::AID-HUMU11>3.0.CO;2-Q     Document Type: Article

References (0)