| Title : Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD) - Muntoni_1995_Hum.Genet_95_491 |
| Author(s) : Muntoni S , Wiebusch H , Funke H , Ros E , Seedorf U , Assmann G |
| Ref : Hum Genet , 95 :491 , 1995 |
| Abstract : Muntoni_1995_Hum.Genet_95_491 |
| ESTHER : Muntoni_1995_Hum.Genet_95_491 |
| PubMedSearch : Muntoni_1995_Hum.Genet_95_491 |
| PubMedID: 7759067 |
Muntoni S, Wiebusch H, Funke H, Ros E, Seedorf U, Assmann G (1995)
Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD)
Hum Genet
95 :491
Muntoni S, Wiebusch H, Funke H, Ros E, Seedorf U, Assmann G (1995)
Hum Genet
95 :491