7 results for author:"Axelrod F.B." in Literature citations
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| Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. Edvardson S., Cinnamon Y., Jalas C., Shaag A., Maayan C., Axelrod F.B., Elpeleg O. Ann. Neurol. 71:569-572(2012) · UniProtKB (1) |
| IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia. Gold-von Simson G., Leyne M., Mull J., Rolnitzky L.M., Goldberg J.D., Berlin D., Axelrod F.B., Slaugenhaupt S.A. Pediatr. Res. 63:186-190(2008) · Mapped (9) |
| Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. Cuajungco M.P., Leyne M., Mull J., Gill S.P., Lu W., Zagzag D., Axelrod F.B., Maayan C., Gusella J.F., Slaugenhaupt S.A. Am. J. Hum. Genet. 72:749-758(2003) · Mapped (9) |
| Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Slaugenhaupt S.A., Blumenfeld A., Gill S.P., Leyne M., Mull J., Cuajungco M.P., Liebert C.B., Chadwick B.P., Idelson M., Reznik L. et al. Am. J. Hum. Genet. 68:598-605(2001) · UniProtKB (1) · Mapped (3) |
| Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31. Chadwick B.P., Leyne M., Gill S., Liebert C.B., Mull J., Mezey E., Robbins C.M., Pinkett H.W., Makalowska I., Maayan C. et al. Mamm. Genome 11:81-83(2000) · UniProtKB (2) |
| Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene. Chadwick B.P., Gill S., Leyne M., Mull J., Liebert C.B., Robbins C.M., Pinkett H.W., Makalowska I., Maayan C., Blumenfeld A. et al. Gene 240:67-73(1999) · UniProtKB (1) |
| Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31. Chadwick B.P., Mull J., Helbling L.A., Gill S., Leyne M., Robbins C.M., Pinkett H.W., Makalowska I., Maayan C., Blumenfeld A. et al. |