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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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Bibliografski detalji
Glavni autori: Roberts, E, Hampshire, D, Pattison, L, Springell, K, Jafri, H, Corry, P, Mannon, J, Rashid, Y, Crow, Y, Bond, J, Woods, C
Format: Artigo
Jezik:Inglês
Izdano: BMJ Group 2002
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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