A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report
ACADM基因的一种新突变(c.145C>G)与另一ACADM等位基因上常见的c.985A>G突变相关,可导致轻度MCAD缺乏症:病例报告
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/1750-1172-5-26
Dessein, Anne-Frédérique; Fontaine, Monique; Andresen, Brage S; Gregersen, Niels; Brivet, Michèle; Rabier, Daniel; Napuri-Gouel, Silvia; Dobbelaere, Dries; Mention-Mulliez, Karine; Martin-Ponthieu, Annie; Briand, Gilbert; Millington, David S; Vianey-Saban, Christine; Wanders, Ronald J A; Vamecq, Joseph