Name：NTCC? NA13275 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA13275
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 8 MO
Gender性別: Female
Description描述: ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
Remarks: Homozygous for 985A>G {Lys304Glu (K304E)} mutation of ACADM (MCAD); normal growth & development; normal height to weight ratio; MCAD deficiency detected on newborn screen; patient shows mild decrease in carnitine
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: ACADM
Disease疾病類型:
Mutations突變: LYS304GLU
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net