The DNAH11 (axonemal heavy chain dynein type 11) gene is mutated in one form of Primary Ciliary Dyskinesia.

被引：0
|
作者：
Bertoloni, L
Pan, Y
Rossier, C
Blouin, JL
Craigen, WJ
Antonarakis, SE
机构：
[1] Univ Geneva, Sch Med, Div Med Genet, Geneva, Switzerland
[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2000年 / 67卷 / 04期
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D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
98
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页码：27 / 27
页数：1
相关论文
共 47 条
  • [1] Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia
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  • [2] New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure
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  • [3] Heavy chain dynein DNAH9: cDNA sequence, genomic structure and exclusion as the gene responsible for one form of Primary Ciliary Dyskinesia.
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  • [4] A Subtype of Primary Ciliary Dyskinesia is Caused by DNAH11 Mutations
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    [J]. EUROPEAN JOURNAL OF PEDIATRICS, 2010, 169 (03) : 391 - 391
  • [5] DNAH11 Mutations Are a Common Cause of Primary Ciliary Dyskinesia (PCD) in Patients with Normal Ciliary Dynein Arms
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  • [6] JAPANESE CASES OF PRIMARY CILIARY DYSKINESIA WITH DNAH5 AND DNAH11 MUTATIONS
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    [J]. RESPIROLOGY, 2019, 24 : 237 - 237
  • [7] Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia
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    [J]. JOURNAL OF MEDICAL GENETICS, 2016, 53 (04) : 242 - 249
  • [8] Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
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    [J]. THORAX, 2012, 67 (05) : 433 - 441
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    Zariwala, Maimoona A.
    [J]. AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY, 2022, 67 (04) : 511 - 514
  • [10] Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations
    Schwabe, Georg C.
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    Bartoloni, Lucia
    [J]. HUMAN MUTATION, 2008, 29 (02) : 289 - 298
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