検索結果 - Angela O'Rawe
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Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity 著者: J-L Blouin, Maggie Meeks, Uppala Radhakrishna, AJ Sainsbury, Chris Gehring, G Duriaux Saïl, Lucia Bartoloni, V H Dombi, Angela O'Rawe, Amanda J. Walne, E. Chung, BA Afzelius, M Armengot, Mark Jorissen, DV Schidlow, Lionel Van Maldergem, H. Walt, R M Gardiner, Daniela Probst, P A Guerne, CD Delozier-Blanchet, Stylianos E. Antonarakis
出版事項 2000Artigo
関連主題
Biology
Gene
Genetics
Medicine
Allele
Anatomy
Batten disease
Bronchiectasis
Compound heterozygosity
Disease
Gene mutation
Genetic heterogeneity
Genetic linkage
Internal medicine
Locus (genetics)
Lung
Missense mutation
Molecular biology
Mutation
Neurodegeneration
Neuronal ceroid lipofuscinosis
Nonsense mutation
Pathology
Phenotype
Primary ciliary dyskinesia
Situs inversus