𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Haplotype analysis in four families with an exon skipping mutation in the ferrochelatase gene

✍ Scribed by Wang, X; Kurtz, L; Bloomer, J; Christiano, A; Poh-Fitzpatrick, M


Book ID
119562656
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
190 KB
Volume
16
Category
Article
ISSN
0923-1811

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Myoclonus–dystonia syndrome with severe
✍ Anjum Misbahuddin; Mark Placzek; Graham Lennox; Jan-Willem Taanman; Thomas T. Wa 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 90 KB

## Abstract We describe two affected individuals in a family with myoclonus–dystonia syndrome complicated with severe depression. One individual committed suicide. Molecular genetic analysis revealed a heterozygous point mutation in the ε‐sarcoglycan gene, which we show leads to skipping of exon 5.

Exon 6 skipping in the fanconi anemia C
✍ Jerome R. Lo Ten Foe; Frank A.E. Kruyt; Marjolein B.M. Zweekhorst; Gerard Pals; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 355 KB 👁 1 views

## How Fancbni anemia (FA) is a rare autosomal recessive disease characterized by diverse clinical symptoms, chromosomal instability, and hypersensitivity