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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Hauptverfasser: Kotecha, Udhaya H., Movva, Sireesha, Sharma, Deepak, Verma, Jyotsna, Puri, Ratna Dua, Verma, Ishwar Chander
Format: Artigo
Sprache:Inglês
Veröffentlicht: Medknow Publications & Media Pvt Ltd 2014
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4181161/
https://ncbi.nlm.nih.gov/pubmed/25222778
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