Documents (31,966) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	10090880	Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships an	1.64 KB	2015-11-06	12	3	-
PubMed	10194428	HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form o	1.29 KB	2015-11-17	12	48	-
PubMed	10196379	Germline BRCA1 alterations in a population-based series of ovarian cancer cases. The objective of th	1.56 KB	2015-11-15	12	9	-
PubMed	10205262	Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a	1.28 KB	2015-11-15	13	3	-
PubMed	10364520	MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfa	1.56 KB	2015-11-15	14	24	-
PubMed	10381492	The C282Y mutation causing hereditary hemochromatosis does not produce a null allele. Targeted mutag	966 Bytes	2015-11-21	8	3	-
PubMed	10465113	Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layer	1.75 KB	2015-11-21	18	3	-
PubMed	10471457	A population-based study of the clinical expression of the hemochromatosis gene. BACKGROUND AND METH	2.3 KB	2015-11-15	11	5	-
PubMed	10472529	Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mu	1.08 KB	2015-11-15	18	5	-
PubMed	10502833	Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese pa	877 Bytes	2015-11-15	11	3	-