Spinocerebellar ataxia: relationship between phenotype and genotype: a review. Clin Genet. 2016;90(4):305-14. https://doi.org/10.1111/cge.12808Sun, Y.M.; Lu, C.; Wu, Z.Y. Spinocerebellar ataxia: relationship between phenotype and genotype - a review. Clin. Genet., 2016, 90(4), 305...
Ji WS, Hu JL, Qiu JW, Pan BR, Peng DR, Shi BL, Zhou SJ, Wu KC, Fan DM.Relationship between genotype and phenotype of flagellin C in Salmonella.World J Gastroenterol 2001;7:864-867Ji WS,Hu JL,Qiu JW,Pan BR,Peng DR,Shi BL,Zhou SJ,Wu KC,Fan DM.Relationship between genotype and...
Thus, we aimed to analyze whether this relationship between personality and CYP2D6 phenotype and genotype was found in a similar population of healthy ... I González,EM Pe?As-Lledó,B Pérez,... - 《Pharmacogenomics》 被引量: 75发表: 2008年 CYP2D6 genotype and venlafaxine-XR concentrations ...
Phenotype and genotype relationship of glutathione peroxidase1 (GPx1) and rs 1800668 variant: the homozygote effect on kinetic parameters. Gene 505 (1), 19-22.Mohammad;Najafi;Hassan;Ghasemi;Abazar;Roustazadeh;Behnam;Alipoor.Phenotype and genotype relationship of glutathione peroxidase1 (GPx1) and ...
Phenotype–genotype comparison between our case, previously reported patients, and subjects with 12p13.33 deletions led us to propose that haploinsufficiency of CACNA1C may influence the variability of the patients' phenotype, since the gene resulted disrupted or entirely deleted in the majority of ...
LIANG Wei-Ling,WEI Hong-Ying,LIAO Ning,ZHOU Jun-Li Keywords:血友病A,基因型,临床表型, Hemophilia A,Genotype,Clinical phenotype Full-TextCite this paperAdd to My Lib Abstract: Full-Text Contact Us service@oalib.com QQ:3279437679 WhatsApp +8615387084133...
Although ATP6i mutations account for most cases of autosomal recessive osteopetrosis, there is limited information on the correlation between genotype and phenotype, particularly at a cellular level. In view of this, the present study was designed to provide insights into the genetic, clinical, and...
Those patients had thin lattice lines in anterior stroma and CCT increased to 628 m. Two families had atypical LCD with H626R mutation. There were differences in phenotype between those two families. The first one had asymmetric, late-onset dystrophy with thin fragile lines extending to DM on...
This study investigated the relationship between the GJB3 c.538C>T variant and hearing phenotype in Chinese to assist with risk assessment and genetic counseling for hearing loss patients and their families. METHOD: The study enrolled 5700 patients with hearing loss and 4600 normal subjects. ...
The aims of this study were to examine the relationships between CYP2D6 genotype and metoprolol dose, S- and R-metoprolol concentrations and clinical effects in patients with systolic heart failure. Data were obtained for 52 subjects, of which 27 had 2 functional alleles (24/27, CYP2D6*1/*1...