Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene
(2003) In Human Mutation 22(1). p.105-106- Abstract
- Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterization of ALPL gene mutations in a series of 11 families from various origins affected by perinatal and infantile hypophosphatasia. Sixteen distinct mutations were found, fifteen of them not previously reported: M45V, G46R, 388-391delGTAA, 389delT, T131I, G145S, D172E, 662delG, G203A, R255L, 876-881delAGGGGA, 962delG, E294K, E435K, and A451T. This confirms that severe hypophosphatasia is due to a large spectrum of mutations in Caucasian populations.
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- author
- organization
- publishing date
- 2003
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Human Mutation
- volume
- 22
- issue
- 1
- pages
- 105 - 106
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- scopus:17144444743
- ISSN
- 1059-7794
- DOI
- 10.1002/humu.9159
- language
- English
- LU publication?
- yes
- id
- e53da016-a9f9-40f1-81aa-a2197bee80e9 (old id 1127735)
- date added to LUP
- 2016-04-01 11:51:39
- date last changed
- 2022-01-26 19:20:26
@article{e53da016-a9f9-40f1-81aa-a2197bee80e9, abstract = {{Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterization of ALPL gene mutations in a series of 11 families from various origins affected by perinatal and infantile hypophosphatasia. Sixteen distinct mutations were found, fifteen of them not previously reported: M45V, G46R, 388-391delGTAA, 389delT, T131I, G145S, D172E, 662delG, G203A, R255L, 876-881delAGGGGA, 962delG, E294K, E435K, and A451T. This confirms that severe hypophosphatasia is due to a large spectrum of mutations in Caucasian populations.}}, author = {{Spentchian, M and Merrien, Y and Herasse, M and Dobbie, Z and Gläser, D and Holder, S and Ivarsson, Sten and Kostiner, D and Mansour, S and Norman, A and Roth, J and Stipolev, F and Taillemite, JL and Van Der Smagt, JJ and Serre, JL and Simon-Bouy, B and Taillandier, A and Mornet, E}}, issn = {{1059-7794}}, language = {{eng}}, number = {{1}}, pages = {{105--106}}, publisher = {{John Wiley & Sons Inc.}}, series = {{Human Mutation}}, title = {{Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene}}, url = {{http://dx.doi.org/10.1002/humu.9159}}, doi = {{10.1002/humu.9159}}, volume = {{22}}, year = {{2003}}, }