𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Autosomal dominant Polycystic Kidney Disease: A linkage evaluation of heterogeneity in Italy

✍ Scribed by Mandich, P. ;Restagno, G. ;Novelli, G. ;Bellone, E. ;Potenza, L. ;Varetto, O. ;Dallapiccola, B. ;Carbonara, A. ;Ajmar, F. ;,


Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
362 KB
Volume
35
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Sonographic diagnosis of seminal vesicle
✍ Hindis, Roman; Manor, Hana; Strauss, Simon πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 60 KB πŸ‘ 1 views

Multiple, bilateral seminal vesicle cysts were found in a young man by transabdominal sonography. Examination of the kidneys disclosed previously unknown autosomal dominant polycystic kidney disease. This case report draws attention to the rare association between these 2 conditions.

Novel splicing and missense mutations in
✍ Gianluca Aguiari; Simone Savelli; Monica Garbo; Angela Bozza; Giuseppina Augello πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 73 KB πŸ‘ 1 views

## Communicated by Michel Goossens Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder mostly characterized by cyst formation in kidney tubules. The majority of ADPKD cases is caused by mutations in the PKD1 gene, but no prevalent mutation has been reported. By heteroduplex a

Extensive genetic heterogeneity in the β€œ
✍ Hisashi Kobayashi; Carlos A. Garcia; Puei-Nam Tay; Eric P. Hoffman πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 312 KB πŸ‘ 2 views

Three dominantly inherited "pure" form of familial spastic paraplegia (FSP) genes have been genetically mapped to regions of chromosomes, yet no specific genes or mutations have been identified (FSPI ; chromosome 14q, FSP2; chromosome 2p and FSP3; chromosome 15q). We studied a "pure" form of autosom

Linkage analysis in a large kindred with
✍ Butler, Merlin G. ;Hodes, M. E. ;Conneally, P. M. ;Biegel, Angenieta A. ;Wright, πŸ“‚ Article πŸ“… 1984 πŸ› John Wiley and Sons 🌐 English βš– 317 KB πŸ‘ 2 views

Schmidt syndrome (PGA syndrome type 11) is a rare condition characterized by polyglandular failure. It is an autosomal dominant trait with variable expressivity that was inherited over four generations in an Indiana kindred. Association of HLA-B8 has been reported with Schmidt syndrome. Our proband