Matches in SemOpenAlex for { <https://semopenalex.org/work/W1036378943> ?p ?o ?g. }
Showing items 1 to 61 of
61
with 100 items per page.
- W1036378943 endingPage "99" @default.
- W1036378943 startingPage "96" @default.
- W1036378943 abstract "核纤层蛋白病(laminopathies)是指由LMNA基因及其编码蛋白lamin A/C异常引起的一组人类遗传病[1].根据临床特征不同,至今被认识的核纤层蛋白病已有10种,除一种由影响成熟lamin A形成的FACE-1基因突变引起外[2],其余9种均由LMNA基因突变引起,其中包括2种既可以常染色体显性又可以常染色体隐性遗传的遗传病:Emery-Dreifuss 肌营养不良(Emery-Dreifuss muscular dystrophy, EDMD,常显EDMD2,常隐EDMD3)[3,4] 和腓骨肌萎缩症2型(Charcot-Marie-Tooth2,常显AD-CMT2,常隐AR-CMT2)[5,6];6种常染色体显性遗传病:肢带型肌营养不良1B(limb girdle muscular dystrophy1B,LGMD1B)[7],扩张性心肌病伴心脏传导阻滞1A(dilated cardiomyopathy and cardiac conduction defects1A, CMD1A)[8],家族部分性脂肪营养不良(familial partial lipodystrophy, FPLD)[9],脂肪营养不良、胰岛素抵抗型糖尿病、弥漫性白黑皮病样丘疹、肝脂肪变性和心肌病综合征(lipoatrophy & insulin-resistant diabetes & disseminated leukomelanodermic papules & liver steatosis and cardiomyopathy,LDHPC)[10],Werner综合征(Werner syndrome, WRN)[11]和早老症(Hutchinson-Gilford progeria syndrome,HGPS)[12];1种常染色体隐性遗传病: Mandibuloacral dysplasia(MAD)[13]." @default.
- W1036378943 created "2016-06-24" @default.
- W1036378943 creator A5029200701 @default.
- W1036378943 creator A5029947196 @default.
- W1036378943 creator A5065382845 @default.
- W1036378943 date "2005-02-18" @default.
- W1036378943 modified "2023-09-24" @default.
- W1036378943 title "核纤层蛋白病--一个基因,多种疾病" @default.
- W1036378943 hasPublicationYear "2005" @default.
- W1036378943 type Work @default.
- W1036378943 sameAs 1036378943 @default.
- W1036378943 citedByCount "0" @default.
- W1036378943 crossrefType "journal-article" @default.
- W1036378943 hasAuthorship W1036378943A5029200701 @default.
- W1036378943 hasAuthorship W1036378943A5029947196 @default.
- W1036378943 hasAuthorship W1036378943A5065382845 @default.
- W1036378943 hasConcept C104317684 @default.
- W1036378943 hasConcept C118552586 @default.
- W1036378943 hasConcept C126322002 @default.
- W1036378943 hasConcept C164705383 @default.
- W1036378943 hasConcept C179093185 @default.
- W1036378943 hasConcept C2778198053 @default.
- W1036378943 hasConcept C2778465436 @default.
- W1036378943 hasConcept C2778797674 @default.
- W1036378943 hasConcept C2779030066 @default.
- W1036378943 hasConcept C2780654407 @default.
- W1036378943 hasConcept C2780723820 @default.
- W1036378943 hasConcept C2781023310 @default.
- W1036378943 hasConcept C29512474 @default.
- W1036378943 hasConcept C54355233 @default.
- W1036378943 hasConcept C71924100 @default.
- W1036378943 hasConcept C86339819 @default.
- W1036378943 hasConcept C86803240 @default.
- W1036378943 hasConceptScore W1036378943C104317684 @default.
- W1036378943 hasConceptScore W1036378943C118552586 @default.
- W1036378943 hasConceptScore W1036378943C126322002 @default.
- W1036378943 hasConceptScore W1036378943C164705383 @default.
- W1036378943 hasConceptScore W1036378943C179093185 @default.
- W1036378943 hasConceptScore W1036378943C2778198053 @default.
- W1036378943 hasConceptScore W1036378943C2778465436 @default.
- W1036378943 hasConceptScore W1036378943C2778797674 @default.
- W1036378943 hasConceptScore W1036378943C2779030066 @default.
- W1036378943 hasConceptScore W1036378943C2780654407 @default.
- W1036378943 hasConceptScore W1036378943C2780723820 @default.
- W1036378943 hasConceptScore W1036378943C2781023310 @default.
- W1036378943 hasConceptScore W1036378943C29512474 @default.
- W1036378943 hasConceptScore W1036378943C54355233 @default.
- W1036378943 hasConceptScore W1036378943C71924100 @default.
- W1036378943 hasConceptScore W1036378943C86339819 @default.
- W1036378943 hasConceptScore W1036378943C86803240 @default.
- W1036378943 hasIssue "1" @default.
- W1036378943 hasLocation W10363789431 @default.
- W1036378943 hasOpenAccess W1036378943 @default.
- W1036378943 hasPrimaryLocation W10363789431 @default.
- W1036378943 hasVolume "37" @default.
- W1036378943 isParatext "false" @default.
- W1036378943 isRetracted "false" @default.
- W1036378943 magId "1036378943" @default.
- W1036378943 workType "article" @default.