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.

A Taillandier; E Cozien; F Muller; Y Merrien; E Bonnin; C Fribourg; B Simon-Bouy; J L Serre; E Bieth; R Brenner

doi:10.1002/(SICI)1098-1004(200003)15:3<293::AID-HUMU11>3.0.CO;2-Q

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.

NobleID: NI6P17W91R35S61
Persistent link: https://nobleid.org/ark:/48914/w1/20260515/98E7EB14

Type:Journal Article

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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.

NobleID: NI6P17W91R35S61
Persistent link: https://nobleid.org/ark:/48914/w1/20260515/98E7EB14

Type:Journal Article

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[![NobleID](https://www.nobleid.org/api/badge/98E7EB14.svg?ark=w1%2F20260515%2F98E7EB14&value=id)](https://nobleid.org/work/w1/20260515/98E7EB14)

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