𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency

✍ Scribed by N Katsumata; S Matsuo; N Sato; T Tanaka


Book ID
119989249
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
652 KB
Volume
11
Category
Article
ISSN
1096-6374

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Progeroid facial features and lipodystro
✍ Denise Horn; Peter N. Robinson πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 363 KB πŸ‘ 2 views

The association of progeroid features and lipodystrophy was very recently described in a female adult with additional manifestations of Marfan syndrome. Mutation analysis of the fibrillin I (FBN1) gene revealed a novel heterozygous frameshift mutation at the 3' end in that patient. Here, we report o