11 Article(s)Download |
PMID | Title | Pub. Year | #Total Relationships |
1 | 17427647 | A case of McCune-Albright syndrome with associated multiple endocrinopathies. | 2007 Mar | 1 |
2 | 11167791 | Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome. | 2001 Jan | 1 |
3 | 11842279 | R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis. | 2001 | 1 |
4 | 8639833 | Molecular basis of a hereditary type I protein S deficiency caused by a substitution of Cys for Arg474. | 1996 Jun 1 | 1 |
5 | 8698744 | Distribution of Gs-alpha activating mutations in human thyroid tumors measured by subcloning. | 1996 | 2 |
6 | 7565304 | p53 gene mutations in pediatric brain tumors. | 1995 Dec | 1 |
7 | 7902568 | The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination. | 1993 Nov 15 | 1 |
8 | 8136274 | A novel dysfunctional protein C (protein C Padua 2) associated with a thrombotic tendency: substitution of Cys for Arg-1 results in a strongly reduced affinity for binding of Ca++. | 1993 Nov | 1 |
9 | 1358601 | A pituitary specific point mutation of codon 201 of the Gs alpha gene in a pituitary adenoma of a patient with multiple endocrine neoplasia (MEN) type 1. | 1992 Jun | 1 |
10 | 1445373 | Molecular analysis of genetic mutation in electrophoretic variant of human lactate dehydrogenase-A(M) subunit. | 1992 Sep | 1 |
11 | 1674745 | Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia. | 1991 Jun 5 | 1 |