Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability. (Q53529024)
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scientific article published on 25 April 2015
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability. |
scientific article published on 25 April 2015 |
Statements
Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability. (English)
Eduardo P Mattos
André Anjos da Silva
José Antônio A Magalhães
Júlio César L Leite
Rejane Gus-Kessler
Juliano Adams Perez
Leonardo M Vedolin
Albertina Torreblanca-Zanca
Pablo Lapunzina
Maria Teresa V Sanseverino
25 April 2015
167
6
1323-1329
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