| 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 |
| Gene_locus related to this paper: human-ABHD5 |
Aggarwal S, Maras JS, Alam S, Khanna R, Gupta SK, Ahuja A (2012)
Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: a challenge for genotype-phenotype correlation.
Eur Journal of Medical Genetics
55 :173
Aggarwal S, Maras JS, Alam S, Khanna R, Gupta SK, Ahuja A (2012)
Eur Journal of Medical Genetics
55 :173