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A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.
Am J Hum Genet. 2004 Apr;74(4):731-7. doi: 10.1086/383094. Epub 2004 Feb 25.
Am J Hum Genet. 2004.
PMID: 14988809
Free PMC article.
Structural basis for dimerization of the Dictyostelium gelation factor (ABP120) rod.
McCoy AJ, Fucini P, Noegel AA, Stewart M.
McCoy AJ, et al.
Nat Struct Biol. 1999 Sep;6(9):836-41. doi: 10.1038/12296.
Nat Struct Biol. 1999.
PMID: 10467095
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