๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Chorea-acanthocytosis: A report of three new families and implications for genetic counselling

โœ Scribed by Vance, Jeffery M. ;Pericak-Vance, Margaret A. ;Bowman, Michael H. ;Payne, Cynthia S. ;Fredane, Louis ;Siddique, Teepu ;Roses, Allen D. ;Massey, E. Wayne ;Opitz, John M. ;Reynolds, James F.


Publisher
John Wiley and Sons
Year
1987
Tongue
English
Weight
470 KB
Volume
28
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Genetic variation of 3ฮฒ-hydroxysteroid d
โœ Devgan, Sunita A.; Henderson, Brian E.; Yu, Mimi C.; Shi, Chen-Yang; Pike, Malco ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 35 KB

## Background: Elevated prostatic dihydrotestosterone (dht) has been suggested to increase the risk of prostate cancer. the hsd3b2 gene encodes the type ii 3 beta-hydroxysteroid dehydrogenase: one of two enzymes that initiate the inactivation of dht. thus, the hsd3b2 gene is a candidate gene for pr

Clinical, pathological, and genetic feat
โœ Hisaomi Kawai; Masashi Akaike; Makoto Kunishige; Toshio Inui; Katsuhito Adachi; ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 469 KB ๐Ÿ‘ 2 views

We report on the clinical, pathological, and genetic features of 7 patients with limb-girdle muscular dystrophy type 2A (LGMD2A) from three Japanese families. The mean age of onset was 9.7 ยฑ 3.1 years (mean ยฑ SD), and loss of ambulance occurred at 38.5 ยฑ 2.1 years. Muscle atrophy was predominant in