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Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/2003, Volume 349, Issue 17, pp. 1614 - 1627
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 81, Issue 5, pp. 1070 - 1083
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 07/2018, Volume 27, Issue 14, pp. 2466 - 2476
Abstract Familial dysautonomia (FD) is a rare genetic disease with no treatment, caused by an intronic point mutation (c.2204+6T>C) that negatively affects the... 
DEFECTS | COMPLEX | SPINAL MUSCULAR-ATROPHY | MESSENGER-RNA | SMALL NUCLEAR-RNA | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | GENE-THERAPY | MUTATIONS | 5' SPLICE-SITE | IKBKAP GENE | ELONGATOR | Index Medicus
Journal Article
Nature, ISSN 0028-0836, 09/2015, Volume 525, Issue 7567, pp. 109 - 113
Journal Article
NATURE GENETICS, ISSN 1061-4036, 10/2015, Volume 47, Issue 10, pp. 1206 - 1206
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2010, Volume 40, Issue 2, pp. 370 - 377
Journal Article
Journal Article