Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene

BACKGROUND & OBJECTIVES: Multiple suphphatase deficiency (MSD) is an autosomal recessive disorder affecting the post translational activation of all enzymes of the sulphatase family. To date, approximately 30 different mutations have been identified in the causative gene, sulfatase modifying fac...

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Detalles Bibliográficos
Autores principales: Kotecha, Udhaya H., Movva, Sireesha, Sharma, Deepak, Verma, Jyotsna, Puri, Ratna Dua, Verma, Ishwar Chander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4181161/
https://www.ncbi.nlm.nih.gov/pubmed/25222778

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