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Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation
Background and objectives: Locus heterogeneity is well established in autosomal recessive primary microcephaly (MCPH) and to date five loci have been mapped. However, the relative contributions of these loci have not been assessed and genotype-phenotype correlations have not been investigated. Desig...
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Glavni autori: | , , , , , , , , , , |
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Format: | Artigo |
Jezik: | Inglês |
Izdano: |
BMJ Group
2002
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Teme: | |
Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734986/ https://ncbi.nlm.nih.gov/pubmed/12362027 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.39.10.718 |
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