PMID- 10094560
OWN - NLM
STAT- MEDLINE
DCOM- 19990323
LR  - 20191103
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 2
DP  - 1999
TI  - 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.
PG  - 171-2
AB  - Hypophosphatasia is a rare inherited disorder characterized by defective bone
      mineralization and deficiency of serum and tissue liver/ bone/kidney tissue
      alkaline phosphatase (L/B/K ALP) activity. We report the characterization of
      tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 9 
      families affected by severe hypophosphatasia. Fourteen distinct mutations were
      found, 3 of which were previously reported in the North American or Japanese
      populations. Seven of the 11 new mutations were missense mutations (M45L, R119H, 
      G145V, C184Y and H154Y, D289V, E459K), the four others were 2 single nucleotide
      deletions (544delG and 1172delC), a mutation affecting donor splice site (862 +
      5A) and a nonsense mutation (R411X).
FAU - Taillandier, A
AU  - Taillandier A
AD  - Centre d'Etudes de Biologie Prenatale-SESEP, Universite de Versailles, France.
FAU - Zurutuza, L
AU  - Zurutuza L
FAU - Muller, F
AU  - Muller F
FAU - Simon-Bouy, B
AU  - Simon-Bouy B
FAU - Serre, J L
AU  - Serre JL
FAU - Bird, L
AU  - Bird L
FAU - Brenner, R
AU  - Brenner R
FAU - Boute, O
AU  - Boute O
FAU - Cousin, J
AU  - Cousin J
FAU - Gaillard, D
AU  - Gaillard D
FAU - Heidemann, P H
AU  - Heidemann PH
FAU - Steinmann, B
AU  - Steinmann B
FAU - Wallot, M
AU  - Wallot M
FAU - Mornet, E
AU  - Mornet E
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - EC 3.1.3.1 (Alkaline Phosphatase)
SB  - IM
MH  - Alkaline Phosphatase/*deficiency/*genetics
MH  - Amino Acid Substitution/genetics
MH  - Humans
MH  - Hypophosphatasia/*enzymology/*genetics
MH  - Mutation/*genetics
MH  - Mutation, Missense/genetics
EDAT- 1999/03/27 03:12
MHDA- 2000/06/22 10:00
CRDT- 1999/03/27 03:12
PHST- 1999/03/27 03:12 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/03/27 03:12 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:2<171::AID-HUMU14>3.0.CO;2-Z [pii]
AID - 10.1002/(sici)1098-1004(1999)13:2<171::aid-humu16>3.0.co;2-t [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(2):171-2. doi:
      10.1002/(sici)1098-1004(1999)13:2<171::aid-humu16>3.0.co;2-t.