𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel germline SDHD mutation in a patient with recurrent familial carotid body tumor and concomitant pheochromocytoma

✍ Scribed by Kim, Eun Sook; Kim, Su Yeon; Mo, Eun Young; Jang, Dong Kyu; Moon, Sung Dae; Han, Je Ho; Andersen, Peter


Book ID
121817562
Publisher
John Wiley and Sons
Year
2014
Tongue
English
Weight
803 KB
Volume
36
Category
Article
ISSN
1043-3074

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Novel mutations in the SDHD gene in pedi
✍ Renee F. Badenhop; Sanjay Cherian; Reginald S.A. Lord; Bora E. Baysal; Peter E.M πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 173 KB

## Abstract Paraganglioma (PGL) is a rare disorder characterized by tumors of the head and neck region. Between 10% and 50% of cases of PGL are familial, and the disease is autosomal dominant and subject to age‐dependent penetrance and imprinting. The paraganglioma gene (__PGL1__) has been mapped t

Use of the single-strand conformational
✍ Gudnason, V. ;Mak, Y-T. ;Betteridge, J. ;McCarthy, S.N. ;Humphries, S. πŸ“‚ Article πŸ“… 1993 πŸ› Springer-Verlag 🌐 English βš– 962 KB

The single-strand conformational polymorphism (SSCP) method was used to look for mutations in the 3' half of exon 4 of the low-density lipoprotein receptor gene in patients with familial hypercholesterolaemia (FH). One set of conditions were found which allowed the detection of four of the mutations