| Title : Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects - Chen_2013_Hum.Mutat_34_1672 |
| Author(s) : Chen DH , Naydenov A , Blankman JL , Mefford HC , Davis M , Sul Y , Barloon AS , Bonkowski E , Wolff J , Matsushita M , Smith C , Cravatt BF , Mackie K , Raskind WH , Stella N , Bird TD |
| Ref : Hum Mutat , 34 :1672 , 2013 |
| Abstract : Chen_2013_Hum.Mutat_34_1672 |
| ESTHER : Chen_2013_Hum.Mutat_34_1672 |
| PubMedSearch : Chen_2013_Hum.Mutat_34_1672 |
| PubMedID: 24027063 |
| Gene_locus related to this paper: human-ABHD12 |
| Gene_locus related to this paper: human-ABHD12 |
Chen DH, Naydenov A, Blankman JL, Mefford HC, Davis M, Sul Y, Barloon AS, Bonkowski E, Wolff J, Matsushita M, Smith C, Cravatt BF, Mackie K, Raskind WH, Stella N, Bird TD (2013)
Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects
Hum Mutat
34 :1672
Chen DH, Naydenov A, Blankman JL, Mefford HC, Davis M, Sul Y, Barloon AS, Bonkowski E, Wolff J, Matsushita M, Smith C, Cravatt BF, Mackie K, Raskind WH, Stella N, Bird TD (2013)
Hum Mutat
34 :1672