ncbi-valid

Documents (44) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	8644702	Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. Nine different germ-line mutations in the BRCA1 breast and ovarian cancer susceptibility gene were identified in 15	1.86 KB	2015-11-27	27	14	-
PubMed	8644703	Rapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis. UKCCCR Familial Ovarian Cancer Study Group. Germ-line mutations of the BRCA1 gene are responsible	925 Bytes	2015-11-27	25	4	-
PubMed	8649785	A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome. We report details of a family with classic Li-Fraumeni syndrome in which there is a m	964 Bytes	2015-11-27	26	7	-
PubMed	8651278	The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. We have searched for germ-line RB1 mutations in 119 patients with hereditary retinoblastoma. Previous investigations by Southern b	1.38 KB	2015-12-05	24	4	-
PubMed	8659522	Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Abn	1.86 KB	2015-11-27	33	10	-
PubMed	8659549	Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease. Canavan disease is inherited as an autosomal recessive trait that is caused by the deficiency of	1.77 KB	2015-11-27	27	8	-
PubMed	8661102	Identification and chromosomal localization of Atm, the mouse homolog of the ataxia-telangiectasia gene. Atm, the mouse homolog of the human ATM gene defective in ataxia-telangiectasia (A-T), has been	679 Bytes	2015-11-27	26	3	-
PubMed	8666397	The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome. The mouse WASP gene, the homolog of the gene mutat	1.22 KB	2015-11-27	26	4	-
PubMed	8670333	Colchicine in breast milk of patients with familial Mediterranean fever. OBJECTIVE: To clarify whether colchicine is excreted in breast milk, and to compare its concentrations in the serum and breast	1.26 KB	2015-03-12	23	5	-
PubMed	8673131	Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Myotonic dystrophy (DM) is commonly associated with CTG repeat expansions within the gene for DM-protein kinase (D	973 Bytes	2015-11-27	26	10	-