Documents (314,913) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	19451548	Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient. We	1.47 KB	2019-05-30	53	1	-
PubMed	18470323	Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) g	2.08 KB	2015-11-24	38	5	-
PubMed	1353340	Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. We report on a new all	716 Bytes	2015-11-18	36	6	-
PubMed	17059986	A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial h	1.74 KB	2015-11-23	36	9	-
PubMed	25054547	Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activi	1.95 KB	2016-01-19	36	1	-
PubMed	21325775	A novel apolipoprotein E mutation, ApoE Osaka (Arg158 Pro), in a dyslipidemic patient with lipoprote	1.68 KB	2015-11-26	35	7	-
PubMed	20846357	A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features o	1.9 KB	2015-11-25	35	5	-
PubMed	20143913	Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopo	1.09 KB	2015-11-25	35	2	-
PubMed	21903317	Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia,	1.65 KB	2015-11-26	35	1	-
PubMed	20801540	Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel g	1.84 KB	2015-11-25	34	6	-