| P2093 | author name string | L C Adès | |
| | E A Haan | |
| | A F Colley | |
| | R I Richard | |
| P2860 | cites work | Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains | Q72706780 |
| | Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils | Q24299279 |
| | Fibrillin Binds Calcium and Is Coded by cDNAs That Reveal a Multidomain Structure and Alternatively Spliced Exons at the 5′ End | Q24310799 |
| | Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction | Q29618515 |
| | A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome | Q34219428 |
| | Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome | Q34337855 |
| | A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. | Q35643001 |
| | Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons | Q35643503 |
| | Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15. | Q35889026 |
| | A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype. | Q35889756 |
| | The Marfan Syndrome: Diagnosis and Management | Q39788812 |
| | Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders | Q40934983 |
| | The genetics of polymorphism in the Lepidoptera | Q42083567 |
| | An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A. | Q45889244 |
| | Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene | Q55671357 |
| | Partial sequence of a candidate gene for the Marfan syndrome | Q59054296 |
| | Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains | Q67482103 |
| | Location on chromosome 15 of the gene defect causing Marfan syndrome | Q68923094 |
| | Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome | Q72250031 |
| P433 | issue | 8 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 665-671 | |
| P577 | publication date | 1996-08-01 | |
| P1433 | published in | Journal of Medical Genetics | Q14640281 |
| P1476 | title | Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome | |
| P478 | volume | 33 | |