A Novel Missense Mutation of C.965C>T (P.Ala322val) in the Human Galns Gene Results in Severe Mucopolysaccharidosis Type Iva

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A Novel Missense Mutation of C.965C>T (P.Ala322val) in the Human Galns Gene Results in Severe Mucopolysaccharidosis Type Iva Publisher

Safavi M¹ ; Setoodeh A² ; Ghoddoosi M^{1, 3}

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1. Molecular Genetic Pathology Lab, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
2. Department of Endocrinology, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
3. Department of Pathology, Qom University of Medical Sciences, Qom, Iran

Source: Iranian Journal of Pathology Published:2025

Abstract

[No abstract available]

Style	Citing Format
MLA	Safavi M, Setoodeh A, Ghoddoosi M. "A Novel Missense Mutation of C.965C>T (P.Ala322val) in the Human Galns Gene Results in Severe Mucopolysaccharidosis Type Iva." Iranian Journal of Pathology, vol. 20, no. 1, 2025, pp. 138-139.
APA	Safavi M, Setoodeh A, Ghoddoosi M (2025). A Novel Missense Mutation of C.965C>T (P.Ala322val) in the Human Galns Gene Results in Severe Mucopolysaccharidosis Type Iva. Iranian Journal of Pathology, 20(1), 138-139.
Chicago	Safavi M, Setoodeh A, Ghoddoosi M. "A Novel Missense Mutation of C.965C>T (P.Ala322val) in the Human Galns Gene Results in Severe Mucopolysaccharidosis Type Iva." Iranian Journal of Pathology 20, no. 1 (2025): 138-139.
Harvard	Safavi M, Setoodeh A, Ghoddoosi M (2025) 'A Novel Missense Mutation of C.965C>T (P.Ala322val) in the Human Galns Gene Results in Severe Mucopolysaccharidosis Type Iva', Iranian Journal of Pathology, 20(1), pp. 138-139.
Vancouver	Safavi M, Setoodeh A, Ghoddoosi M. A Novel Missense Mutation of C.965C>T (P.Ala322val) in the Human Galns Gene Results in Severe Mucopolysaccharidosis Type Iva. Iranian Journal of Pathology. 2025;20(1):138-139.
BibTex	@article{ author = {Safavi M and Setoodeh A and Ghoddoosi M}, title = {A Novel Missense Mutation of C.965C>T (P.Ala322val) in the Human Galns Gene Results in Severe Mucopolysaccharidosis Type Iva}, journal = {Iranian Journal of Pathology}, volume = {20}, number = {1}, pages = {138-139}, year = {2025} }
RIS	TY - JOUR AU - Safavi M AU - Setoodeh A AU - Ghoddoosi M TI - A Novel Missense Mutation of C.965C>T (P.Ala322val) in the Human Galns Gene Results in Severe Mucopolysaccharidosis Type Iva JO - Iranian Journal of Pathology VL - 20 IS - 1 SP - 138 EP - 139 PY - 2025 ER -

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