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Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

Brachydactyly (BD) type A2 is an autosomal dominant hand malformation characterized by shortening and lateral deviation of the index fingers and, to a variable degree, shortening and deviation of the first and second toes. We performed linkage analysis in two unrelated German families and mapped a l...

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Hlavní autoři: Lehmann, Katarina, Seemann, Petra, Stricker, Sigmar, Sammar, Marai, Meyer, Birgit, Süring, Katrin, Majewski, Frank, Tinschert, Sigrid, Grzeschik, Karl-Heinz, Müller, Dietmar, Knaus, Petra, Nürnberg, Peter, Mundlos, Stefan
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2003
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC218749/
https://ncbi.nlm.nih.gov/pubmed/14523231
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.2133476100
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