Novel sequence variations in the thymidine phosphorylase gene causing mitochondrial neurogastrointestinal encephalopathy.
Departments of aGastroenterology bMedical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences cNational Bureau of Fish Genetics and Resources, Lucknow, India.
Arun
A
Karyampudi
Priyanka
P
Srivastava
Kausik
K
Mandal
Prabhaker
P
Yadav
Uday C
UC
Ghoshal
Abhai
A
Verma
Shubha R
SR
Phadke
D000293:Adolescent; D016145:Endoscopy, Digestive System; D056726:Genetic Association Studies; D014644:Genetic Variation; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis* / Q000235:genetics*; D039141:Muscular Dystrophy, Oculopharyngeal; D009886:Ophthalmoplegia / Q000151:congenital; D010641:Phenotype; D013902:Radiography, Thoracic; D013939:Thymidine Phosphorylase / Q000737:chemistry / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D028361:Mitochondrial Diseases
D013939:Thymidine Phosphorylase