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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
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, ISSN 0165-5876, 05/2017, Volume 96, pp. 35 - 38
Sensorineural hearing loss (SNHL) is the most prevalent genetic sensory defect in humans, affecting about 1 in 1000 newborns around the world. Non-syndromic... 
POPULATION | XVA | DEAFNESS DFNB3 | IDENTIFICATION | Hearing loss | GENE | MYO15A | FAMILIES | OTORHINOLARYNGOLOGY | Intronic mutations | UNCONVENTIONAL MYOSIN | PEDIATRICS | SHAKER-2
Journal Article
Human Mutation, ISSN 1059-7794, 02/2016, Volume 37, Issue 2, pp. 184 - 193
Journal Article
Blood Coagulation & Fibrinolysis, ISSN 0957-5235, 04/2018, Volume 29, Issue 4, pp. 381 - 386
Hemophilia A is a bleeding disorder caused by coagulation factor VIII protein deficiency or dysfunction, which is classified into severe, moderate, and mild... 
cDNA sequencing | pSPL3 assay | F8 gene | intronic mutation | PyMol | Human Splicing Finder | DIAGNOSIS | HUMAN FACTOR-VIII | C2 DOMAIN | PHENOTYPE | VON-WILLEBRAND-FACTOR | DEFICIENCY | MILD | INACTIVATION | VONWILLEBRAND-FACTOR | HEMATOLOGY | BINDING | Care and treatment | Gene mutations | Introns | Hemophilia | Development and progression | Genetic aspects | Health aspects | Index Medicus | Original
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 | Index Medicus
Journal Article
Journal Article
18.