Catalyzing precision: unraveling the diagnostic conundrum of tunisian familial hypophosphatasia case through integrative clinical and molecular approaches-Reference-Cited by-同舟云学术

Catalyzing precision: unraveling the diagnostic conundrum of tunisian familial hypophosphatasia case through integrative clinical and molecular approaches

Published:2024-06-23 Issue:1 Volume:299 Page:
ISSN:1617-4615
Container-title:Molecular Genetics and Genomics
language:en
Short-container-title:Mol Genet Genomics

Author:

Amri Yessine^ORCID,Dabboubi Rym,Khemiri Monia,Jebabli Elham,Hadj Fredj Sondess,Ahmed Sarra Ben,Jouini Yosr,Ouali Faida,Messaoud Taieb

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s00438-024-02157-y.pdf

Reference26 articles.

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3. Brun-Heath I, Taillandier A, Serre JL, Mornet E (2005) Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. Mol Genet Metab 84(3):273–277. https://doi.org/10.1016/j.ymgme.2004.11.003. (Epub 2004 Dec 19 PMID: 15694177)

4. Guex N, Peitsch MC (1997) SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis 18:2714–2723. https://doi.org/10.1002/elps.1150181505

5. Hypophosphatasia FD (1957) Am J Med 22(5):730–746. https://doi.org/10.1016/0002-9343(57)90124-9