Documents (31,966) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	10594001	Mutational analysis of the HGO gene in Finnish alkaptonuria patients. Alkaptonuria (AKU), the protot	641 Bytes	2015-11-15	12	5	-
PubMed	10736265	Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a si	2.12 KB	2015-11-21	12	3	-
PubMed	10790204	Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: iden	1.5 KB	2015-11-21	18	5	-
PubMed	10861298	Functional differences of the PDS gene product are associated with phenotypic variation in patients	1.49 KB	2015-11-15	13	3	-
PubMed	1384323	A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screenin	1.27 KB	2015-11-18	18	3	-
PubMed	9012409	Molecular basis for Duarte and Los Angeles variant galactosemia. Human orythrocytes that are homozyg	1.97 KB	2015-11-27	11	5	-
PubMed	8551426	A prevalent mutation for galactosemia among black Americans. OBJECTIVE: To define the mutation causi	1.52 KB	2015-11-27	10	5	-
PubMed	9463314	ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of m	1.35 KB	2015-11-27	32	5	-
PubMed	1353340	Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. We report on a new all	716 Bytes	2015-11-18	42	3	-
PubMed	1301201	In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus.	965 Bytes	2015-11-18	12	5	-