Molecular genetics and genomics, Tập 2, Số 4, 2014
Mục lục:
DòngNội dung
1Re-defininG AddiC CH3 Tion: genomics and epigenomics on substance use disorders / Joni L. Rutter & Nora D. Volkow
2Genetics and genomics in Brazil: a promising future / Maria Rita Passos-Bueno and others
346,XY disorder of sexual development resulting from a novel monoallelic mutation (p.Ser31Phe) in the steroid 5a-reductase type-2 (SRD5A2) gene / Bertha Chavez and others
4Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders / Beatrice Saposnik and others
5Association of the c.385C>A (p.Pro129Thr) polymorphism of the fatty acid amide hydrolase gene with anorexia nervosa in the Japanese population / Tetsuya Ando and
6Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome / Mark T. Handley and others
7Telomere length, family history, and paternal age in schizophrenia / Dolores Malaspina and others
8A-T Winnipeg : Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity / Kotoka Nakamura and others
9Haploinsufficiency of insulin gene enhancer protein 1 (ISL1) is associated with d-transposition of the great arteries / Kazutoyo Osoegawa and others
10Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein / Mev Dominguez-Valentin and others
11Kawasaki disease patients homozygous for the rs12252-C variant of interferon-induced transmembrane protein-3 are significantly more likely to develop coronary artery lesions