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Nucleic Acids Research, ISSN 0305-1048, 2017, Volume 45, Issue 21, pp. 12214 - 12240
Spinal muscular atrophy (SMA) is caused by deletions or mutations of the Survival Motor Neuron 1 (SMN1) gene coupled with predominant skipping of SMN2 exon 7.... 
DISTANCE | U1 SNRNP | SURVIVAL MOTOR-NEURON | SMALL NUCLEAR-RNA | BIOCHEMISTRY & MOLECULAR BIOLOGY | INTRONIC STRUCTURE | SELECTION | CRITICAL EXON | SMN GENE | SINGLE NUCLEOTIDE | PRE-MESSENGER-RNA | Gene regulation, Chromatin and Epigenetics
Journal Article
Neurology, ISSN 0028-3878, 2001, Volume 57, Issue 4, pp. 621 - 625
Journal Article
Human Mutation, ISSN 1059-7794, 02/2016, Volume 37, Issue 2, pp. 184 - 193
Journal Article
Journal Article
Journal of Thrombosis and Haemostasis, ISSN 1538-7933, 10/2011, Volume 9, Issue 10, pp. 1973 - 1976
See also Zucker M, Rosenberg N, Peretz H, Green D, Bauduer F, Zivelin A, Seligsohn U. Point mutations regarded as missense mutations cause splicing defects in... 
MOLECULAR CHARACTERIZATION | EXON SEQUENCES | ACTIVATION | FACTOR-V DEFICIENCY | HEMOPHILIA-A | SPLICE-SITE | AFIBRINOGENEMIA | PERIPHERAL VASCULAR DISEASE | FACTOR-VIII GENE | INTRONIC MUTATION | IDENTIFICATION | HEMATOLOGY | Point Mutation | Female | Factor XI - genetics | RNA Splicing | Mutation, Missense | Humans
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 3/2019, Volume 21, Issue 3, pp. 694 - 704
Journal Article
JOURNAL OF THROMBOSIS AND HAEMOSTASIS, ISSN 1538-7933, 07/2015, Volume 13, Issue 7, pp. 1184 - 1195
HemophiliaB is an X-chromosome-linked inherited bleeding disorder primarily affecting males, but those carrier females with reduced factorIX activity (FIX:C)... 
B PATIENTS | BLEEDING DISORDERS | DEPENDENT PROBE AMPLIFICATION | QUALITY ASSESSMENT SCHEME | factorIX | hemophiliaB | GERM-LINE MUTATION | F9 MESSENGER-RNA | genetic carrier detection | DEEP INTRONIC MUTATIONS | POINT MUTATIONS | DNA Mutational Analysis | PERIPHERAL VASCULAR DISEASE | FACTOR-IX GENE | prenatal diagnosis | HEMATOLOGY | PRENATAL-DIAGNOSIS
Journal Article