目的对贝克氏型肌营养不良症女性患者的家系追踪研究。
Objective To investigate the genealogical tree of women with Becker muscular dystrophy (BMD).
目的探讨面肩肱型肌营养不良症(FSHD)1A的基因型与临床表型之间的相关关系。
Objective To explore the genotype-phenotype correlation of facioscapulohumeral muscular dystrophy (FSHD) 1A gene.
目的对面肩肱型肌营养不良症(FSHD)患者进行基因诊断并总结其临床特征,以提高FSHD的诊断水平。
Objective To perform gene diagnosis and summarize clinical features of facioscapulohumeral muscular dystrophy(FSHD)in order to improve its diagnosis.
目的对导致肌营养不良症的基因编码产物进行检测,从分子水平为临床诊断和分型提供依据。
Objective To provide a useful tool based on molecular level for clinical diagnosis and classification by detecting gene products encoded by disease genes of muscular dystrophy.
目的对导致肌营养不良症的基因编码产物进行检测,从分子水平为临床诊断和分型提供依据。
Objective To provide a useful tool based on molecular level for clinical diagnosis and classification by detecting gene products encoded by disease genes of muscular dystrophy.
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