𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of a novel polymorphism (IVS45+20 C/A) in the splice site of intron 45 of the ryanodine receptor gene (RYR1)

✍ Scribed by H. Rueffert; D. Olthoff; C. Deutrich; H. Kraus; U.G. Froster


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
10 KB
Volume
16
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


A donor splice site mutation (1811+1G→C)
✍ Lidija Petreska; Svetlana Kočeva; Georgi Dimitar Efremov πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 106 KB πŸ‘ 1 views

In order to determine the molecular defect in the CFTR gene in uncharacterized CF patients from former Yugoslavia, we have employed SSCP analysis of PCR amplified fragments of exon 12 of the CFTR gene (Orita et al., 1989) (primer sequences available on request). A bandshift was detected in a DNA sam

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

Novel acceptor splice site mutation in t
✍ Takehiko Matsumura; Hitoshi Osaka; Naoya Sugiyama; Chiaki Kawanishi; Yasuko Maru πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 81 KB

We found a novel acceptor splice site mutation in the invariant AG of intron 6 of a-galactosidase A (a-Gal A) gene (IVS6-1G->A) in a patient with Fabry disease by sequencing of genomic DNA. Sequencing of RT-PCR revealed the deletion of first base pair (c909del) of exon 7 in mRNA and a frameshift res

A novel point mutation in a splice accep
✍ Takao Maruyama; Yasuko Miyake; Taku Yamamura; Shoji Tajima; Tohru Funahashi; Yuj πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 163 KB πŸ‘ 2 views

Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in the low density lipoprotein (LDL)-receptor gene. We found a new mutation in the splice acceptor site of intron 1 of the LDL receptor gene, which is designated as 68-1 G->C according to the nomenclature suggested by , in