A locus for primary ciliary dyskinesia maps to chromosome 19q
about
Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate geneMutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalitiesRadial spoke proteins of Chlamydomonas flagellaPrimary ciliary dyskinesia (Siewert's/Kartagener's syndrome): respiratory symptoms and psycho-social impactGenetic factors contributing to human primary ciliary dyskinesia and male infertilityMultilocus genetic models of handedness closely resemble single-locus models in explaining family data and are compatible with genome-wide association studies.The outer dynein arm-docking complex: composition and characterization of a subunit (oda1) necessary for outer arm assemblyGermline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).Transmission electron microscopy in the diagnosis of primary ciliary dyskinesia.Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25.Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes.Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes.Isolation and expression of the human hPF20 gene orthologous to Chlamydomonas PF20: evaluation as a candidate for axonemal defects of respiratory cilia and sperm flagella.Cilia propel the embryo in the right direction.Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q
P2860
Q24290475-06AE6F74-F30F-4C4F-9E49-187C28DB39E5Q24306694-BFF54C2D-5B98-4B0E-B854-F79BDF66655CQ24308816-2C77002A-4BAB-4201-B61C-A2C6AEE5EC0CQ24685097-8EA75827-11E3-4310-8920-92EB9A8CD6EFQ24805598-FE93583A-0374-4621-88E4-1746F30E352FQ26748534-34366900-8918-412A-A864-5C4434ABCE09Q30620584-522CB61F-A607-498A-992E-A0F848FC8486Q34011786-5A78620A-8105-42DB-9AF7-DF5182BD495EQ34102243-2024A7FC-50CD-43CD-BB30-782DD91102CFQ34461593-CBB9AF4D-6487-4E9B-81F1-0C3075E1B826Q34565864-8B39041D-5E42-4A90-95C5-DEA97CFF5743Q43168035-496B0404-5366-4C52-8CA5-C2129A0FB1EEQ43235661-F39B78F1-CCFB-49B1-AC9D-6F003394809AQ45843543-5A5B49FD-3C79-4682-9543-6B9D78FA3B0BQ51726068-7AD47510-AE57-4386-B5E3-E5F3D223684CQ52132073-CF9DAC68-FE20-4A48-80F3-4C51FF7D7390Q56968837-58F6F9F6-02CE-476D-B9C2-AAA7322B8A2B
P2860
A locus for primary ciliary dyskinesia maps to chromosome 19q
description
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A locus for primary ciliary dyskinesia maps to chromosome 19q
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A locus for primary ciliary dyskinesia maps to chromosome 19q
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A locus for primary ciliary dyskinesia maps to chromosome 19q
@ast
A locus for primary ciliary dyskinesia maps to chromosome 19q
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A locus for primary ciliary dyskinesia maps to chromosome 19q
@ast
A locus for primary ciliary dyskinesia maps to chromosome 19q
@en
P2093
P2860
P356
P1476
A locus for primary ciliary dyskinesia maps to chromosome 19q
@en
P2093
Al-Dabbagh M
Gardiner RM
Mitchison HM
Mussaffi-Georgy H
P2860
P304
P356
10.1136/JMG.37.4.241
P407
P577
2000-04-01T00:00:00Z