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Pregled bibliografske jedinice broj: 810769

Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene

Spentchian, M; Merrien, Y; Herasse, M; Dobbie, Z; Glaser, D; Holder, SE; Ivarsson, SA; Kostiner, D; Mansour, S; Norman, A et al.
Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene // Human mutation, 22 (2003), 1; 105-106 doi:10.1002/humu.9159 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 810769 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene

Autori
Spentchian, M ; Merrien, Y ; Herasse, M ; Dobbie, Z ; Glaser, D ; Holder, SE ; Ivarsson, SA ; Kostiner, D ; Mansour, S ; Norman, A ; Roth, J ; Stipoljev, Feodora ; Taillemite, JL ; van der Smagt, JJ ; Serre, JL ; Simon-Bouy, B ; Taillandier, A ; Mornet, E.

Izvornik
Human mutation (1059-7794) 22 (2003), 1; 105-106

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
ALPL ; TNSALP ; hypophosphatasia ; alkaline phosphatase

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Klinička bolnica "Sveti Duh"

Profili:

Avatar Url Feodora Stipoljev (autor)

Poveznice na cjeloviti tekst rada:

doi onlinelibrary.wiley.com

Citiraj ovu publikaciju:

Spentchian, M; Merrien, Y; Herasse, M; Dobbie, Z; Glaser, D; Holder, SE; Ivarsson, SA; Kostiner, D; Mansour, S; Norman, A et al.
Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene // Human mutation, 22 (2003), 1; 105-106 doi:10.1002/humu.9159 (međunarodna recenzija, članak, znanstveni)
Spentchian, M., Merrien, Y., Herasse, M., Dobbie, Z., Glaser, D., Holder, S., Ivarsson, S., Kostiner, D., Mansour, S. & Norman, A. (2003) Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene. Human mutation, 22 (1), 105-106 doi:10.1002/humu.9159.
@article{article, author = {Spentchian, M and Merrien, Y and Herasse, M and Dobbie, Z and Glaser, D and Holder, SE and Ivarsson, SA and Kostiner, D and Mansour, S and Norman, A and Roth, J and Stipoljev, Feodora and Taillemite, JL and van der Smagt, JJ and Serre, JL and Simon-Bouy, B and Taillandier, A and Mornet, E.}, year = {2003}, pages = {105-106}, DOI = {10.1002/humu.9159}, keywords = {ALPL, TNSALP, hypophosphatasia, alkaline phosphatase}, journal = {Human mutation}, doi = {10.1002/humu.9159}, volume = {22}, number = {1}, issn = {1059-7794}, title = {Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene}, keyword = {ALPL, TNSALP, hypophosphatasia, alkaline phosphatase} }
@article{article, author = {Spentchian, M and Merrien, Y and Herasse, M and Dobbie, Z and Glaser, D and Holder, SE and Ivarsson, SA and Kostiner, D and Mansour, S and Norman, A and Roth, J and Stipoljev, Feodora and Taillemite, JL and van der Smagt, JJ and Serre, JL and Simon-Bouy, B and Taillandier, A and Mornet, E.}, year = {2003}, pages = {105-106}, DOI = {10.1002/humu.9159}, keywords = {ALPL, TNSALP, hypophosphatasia, alkaline phosphatase}, journal = {Human mutation}, doi = {10.1002/humu.9159}, volume = {22}, number = {1}, issn = {1059-7794}, title = {Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene}, keyword = {ALPL, TNSALP, hypophosphatasia, alkaline phosphatase} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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