Abstract:
: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).
journal_name
Hum Mutatjournal_title
Human mutationauthors
Taillandier A,Zurutuza L,Muller F,Simon-Bouy B,Serre JL,Bird L,Brenner R,Boute O,Cousin J,Gaillard D,Heidemann PH,Steinmann B,Wallot M,Mornet Edoi
10.1002/(sici)1098-1004(1999)13:2<171::aid-humu16>keywords:
subject
Has Abstractpub_date
1999-01-01 00:00:00pages
171-2issue
2eissn
1059-7794issn
1098-1004pii
10.1002/(SICI)1098-1004(1999)13:2<171::AID-HUMU14>journal_volume
13pub_type
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