Identification of a premature stop codon mutation in the...

American Journal of Medical Genetics Part A 2015 / 06 Vol. 167; Iss. 6

Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability

Mattos, Eduardo P., Silva, André Anjos da, Magalhães, José Antônio A, Leite, Júlio César L., Leistner-Segal, Sandra, Gus-Kessler, Rejane, Perez, Juliano Adams, Vedolin, Leonardo M., Torreblanca-Zanca,
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Volume:
167
Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.36930
Date:
June, 2015
File:
PDF, 1.40 MB
english, 2015
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