Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations
Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations
复制标题
下肢为主的常染色体显性脊髓性肌萎缩症：BICD2 突变的可识别表型
作者：
S. Rudnik;Florian Deden;K. Eggermann;T. Eggermann;D. Wieczorek;B. Sellhaus;A. Yamoah;A. Goswami;K. Claeys;J. Weis;K. Zerres
BICD 2基因杂合子突变导致一种常染色体显性脊髓性肌萎缩伴下肢优势（SMALED）。
Heterozygous BICD2 gene mutations cause a form of autosomal dominant spinal muscular atrophy with lower extremity predominance (SMALED).
影响因子：
14.5
作者：
Rossor, Alexander M.;Oates, Emily C.;North, Kathryn N.
通讯作者：
North, Kathryn N.
影响因子：
9.8
作者：
Oates, Emily C.;Rossor, Alexander M.;Reilly, Mary M.
通讯作者：
Reilly, Mary M.