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Mutation analysis of LMX1B gene in nail-patella syndrome patients.

Nail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To determine whether specific LMX1B mutations are associated with different...

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Bibliografiset tiedot
Päätekijät: McIntosh, I, Dreyer, S D, Clough, M V, Dunston, J A, Eyaid, W, Roig, C M, Montgomery, T, Ala-Mello, S, Kaitila, I, Winterpacht, A, Zabel, B, Frydman, M, Cole, W G, Francomano, C A, Lee, B
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1998
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377636/
https://ncbi.nlm.nih.gov/pubmed/9837817
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