𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A familial chromosomal syndrome in a large kindred

✍ Scribed by Stanley Walzer; Blaise Favara; Park S. Gerald


Book ID
118534915
Publisher
Elsevier Science
Year
1966
Tongue
English
Weight
298 KB
Volume
69
Category
Article
ISSN
1097-6833

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Clinical symptoms and possible anticipat
✍ Dr. Claudia Trenkwalder; Victor Collado Seidel; Thomas Gasser; Wolfgang H. Oerte πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 455 KB

## Abstract Idiopathic restless legs syndrome (RLS) frequently follows an autosomal dominant inheritance with a variable clinical expressivity of symptoms. We describe the largest German kindred of familial RLS with 20 affected and investigated members in four generations with a variety of clinical

The fragile X chromosome in a large Indi
✍ R. J. M. Gardner; R. D. Smart; J. M. Cornell; L. M. Merckel; P. Beighton πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 395 KB
Familial multiple polyposis. A statistic
✍ Henry B. Asman; Edward R. Pierce πŸ“‚ Article πŸ“… 1970 πŸ› John Wiley and Sons 🌐 English βš– 630 KB

Seventy-two cases of proven familial multiple polyposis and 8 deduced cases of familial multiple polyposis were detected in a large Kentucky kindred of 1,422 members. The mean age a t onset of symptoms in 41 polyposis patients was 28.9 years, the mean age at diagnosis of polyposis in 72 kindred memb

Transthyretin TYR77 familial amyloid pol
✍ Carmen R. Blanco-Jerez; Adriano JimΓ©nez-Escrig; Jose M. Gobernado; Silvia Lopez- πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 218 KB

More than 40 point mutations (producing different clinical manifestations) have been described in diverse points of the plasma protein transthyretin (TTR). The Met30 is considered the most common mutation, the Tyr77 mutation being the second most prevalent. However, data from patients with this late