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Sport Sciences for Health, ISSN 1824-7490, 12/2017, Volume 13, Issue 3, pp. 495 - 506
... Li 1,2 • Foong Kiew Ooi 1,5 • Bin Alwi Zilfalil 3 • Surini Yusoff 3,4 Received: 15 August 2016 / Accepted: 15 December 2016 / Published online: 26 December 2016... 
Medicine & Public Health | Human Physiology | Sports Medicine | Metabolic Diseases | Ethnic groups | I/D Polymorphism | ACE gene | Physical fitness performance | Physiological aspects | Physical fitness | Genetic aspects | Research | Genetic polymorphisms | Angiotensin converting enzyme
Journal Article
The Kobe journal of the medical sciences, ISSN 0023-2513, 2011, Volume 57, Issue 1, pp. 26 - 31
The UGT1A1 gene encodes a responsible enzyme, UDP-glucuronosyltransferase1A1,for bilirubin metabolism. Many mutations have already been identified in patients... 
Haplotypes | Hyperbilirubinemia - genetics | Glucuronosyltransferase - genetics | Homozygote | Gilbert Disease - genetics | Exons | Humans | Female | Male | Mutation | Child
Journal Article
Journal Article
Journal of Chromatography B, ISSN 1570-0232, 2006, Volume 838, Issue 1, pp. 9 - 14
Mutations in the gene encoding UDP-glucuronosyltransferase 1A1 (UGT1A1) may reduce the glucuronidation of estradiol, bilirubin, etc. In the present study, we... 
UGT1A1 | 17β-Estradiol | Mutation | CHEMISTRY, ANALYTICAL | GENETIC-BASIS | 17 beta-estradiol | BILIRUBIN UDP-GLUCURONOSYLTRANSFERASE | GLUCURONIDATION | BIOCHEMICAL RESEARCH METHODS | G71R | mutation | CLONING | ASSOCIATION | EXPRESSION | TRANSFERASE
Journal Article
Asian Biomedicine, ISSN 1905-7415, 03/2017, Volume 10, Issue 6, pp. 537 - 547
Background: Thalassemia is a common monogenic disease in Southeast Asia. Patients with transfusion-dependent thalassemia require frequent blood transfusions,... 
practice | Southeast Asia | Iron chelation therapy | thalassemia | Practice | Thalassemia | OVERLOAD | HEMOGLOBIN | MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | MANAGEMENT | EFFICACY | SAFETY | CHILDREN | BETA-THALASSEMIA | DEFERIPRONE | BLOOD
Journal Article
The Kobe journal of the medical sciences, ISSN 0023-2513, 02/2008, Volume 54, Issue 1, pp. 73 - 81
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterizedby epilepsy, mental retardation, skin lesions, and tumors in various organs.... 
TSC2 | Splice-acceptor site | TSC1 | DHPLC | NAGNAG | Tuberous Sclerosis - pathology | RNA Splice Sites - genetics | Base Sequence | Humans | Tumor Suppressor Proteins - genetics | Alleles | Nucleotides - genetics | Exons - genetics | Mutation, Missense - genetics | Tuberous Sclerosis - genetics
Journal Article
Evidence-based complementary and alternative medicine, ISSN 1741-427X, 09/2010, Volume 2011, pp. 1 - 7
Journal Article
Paediatrica Indonesiana, ISSN 0030-9311, 06/2010, Volume 50, Issue 3, pp. 125 - 32
Background Mutations in the a-subunit of the first neuronalsodium channel gene SCNIA have been demonstrated forgeneralized epilepsy \\lith febrile seizures... 
mutation | autistic spectrum disorder | severe myoclonic epilepsy in infancy | SCNIA | generalized epilepsy with febrile seizures plus
Journal Article
Annals of human biology, ISSN 0301-4460, 09/2016, Volume 43, Issue 5, pp. 445 - 450
Journal Article