Report for Ahuja A

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References (1)

Title : Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: a challenge for genotype-phenotype correlation. - Aggarwal_2012_Eur.J.Med.Genet_55_173

Author(s) : Aggarwal S , Maras JS , Alam S , Khanna R , Gupta SK , Ahuja A

Ref : Eur Journal of Medical Genetics , 55 :173 , 2012

Abstract : Aggarwal_2012_Eur.J.Med.Genet_55_173

ESTHER : Aggarwal_2012_Eur.J.Med.Genet_55_173

PubMedSearch : Aggarwal_2012_Eur.J.Med.Genet_55_173

PubMedID: 22373837

Gene_locus related to this paper: human-ABHD5

Report for Ahuja A

General

References (1)

1. Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: a challenge for genotype-phenotype correlation.