Finnish type Amyloidosis is an autosomal dominant disorder caused by mutations of the GSN gene.
|
|
|
|||
|
|
|
|||
|
|
|
|||
|
|
|
|||
|
|
|
|||
|
|
|
|
||
|
|
|
|||
| 1. |
Haltia M et al. (1992) Gelsolin gene mutationat codon 187in familial amyloidosis, Finnish: DNA-diagnostic assay.
|
| 2. |
Weinstein LS et al. (2003) HRPT2, a marker of parathyroid cancer.
|
| 3. |
None (2001) Clinical review 122: Parathyroid carcinoma.
|
| 4. |
Wang CA et al. (1985) Natural history of parathyroid carcinoma. Diagnosis, treatment, and results.
|
| 5. |
Akiya S et al. (1996) Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV.
|
| 6. |
Kiuru S et al. (1994) Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF).
|
| 7. |
Winkelman JE et al. (1971) [An hereditary syndrome consisting of peripheral polyneuropathy, skin changes and lattice-shaped corneal dystrophy].
|
| 8. |
Darras BT et al. (1986) Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.
|
| 9. |
Meretoja J et al. (1978) Partial characterization of amyloid proteins in inherited amyloidosis with lattice corneal dystrophy and in secondary amyloidosis.
|
| 10. |
Boysen G et al. (1979) Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.
|
| 11. |
Starck T et al. (1991) Clinical and histopathologic studies of two families with lattice corneal dystrophy and familial systemic amyloidosis (Meretoja syndrome).
|
| 12. |
None (1992) Familial amyloidosis of the Finnish type (FAF). A clinical study of 30 patients.
|
| 13. |
Shattuck TM et al. (2003) Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma.
|
| 14. |
None (1993) Homozygous familial amyloidosis, Finnish type: demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin.
|
| 15. |
Sack GH et al. (1981) Three forms of dominant amyloid neuropathy.
|
| 16. |
Purcell JJ et al. (1983) Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome).
|
| 17. |
None (1973) Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy.
|
| 18. |
Maury CP et al. (1990) Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.
|
| 19. |
Haltia M et al. (1990) Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin.
|
| 20. |
Maury CP et al. (1990) Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline.
|
| 21. |
de la Chapelle A et al. (1992) Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family.
|
| 22. |
Paunio T et al. (1992) Solid-phase minisequencing test reveals Asp187--Asn (G654--A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis.
|
| 23. |
Sipilä K et al. (2002) Database for the mutations of the Finnish disease heritage.
|
| 24. |
OMIM.ORG article Omim 105120
|
| 25. |
Orphanet article Orphanet ID 85448
|
| 26. |
Wikipedia article Wikipedia EN (Lattice_corneal_dystrophy)
|