✦ LIBER ✦

A novel intron site in the triosephosphate isomerase gene from the mosquito Culex tarsalis

✍ Scribed by Tittiger, Claus; Whyard, Steve; Walker, Virginia K.

Book ID: 109783141
Publisher: Nature Publishing Group
Year: 1993
Tongue: English
Weight: 367 KB
Volume: 361
Category: Article
ISSN: 0028-0836
DOI: 10.1038/361470a0

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Characterization of a novel esterase con

Characterization of a novel esterase conferring insecticide resistance in the mosquito Culex tarsalis

✍ Steven Whyard; Aylward E. R. Downe; Virginia K. Walker 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 768 KB

Progeroid facial features and lipodystro

Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene

✍ Denise Horn; Peter N. Robinson 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 363 KB 👁 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

Identification of a novel polymorphism (

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

✍ H. Rueffert; D. Olthoff; C. Deutrich; H. Kraus; U.G. Froster 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 2 views

Novel acceptor splice site mutation in t

Novel acceptor splice site mutation in the invariant AG of intron 6 of α-galactosidase A gene, causing Fabry disease

✍ Takehiko Matsumura; Hitoshi Osaka; Naoya Sugiyama; Chiaki Kawanishi; Yasuko Maru 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 81 KB 👁 1 views

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 mutation at the invariant accept

A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G→T] detected by a PCR-based diagnostic test

✍ David H. Brown; Barbara L. Triggs-Raine; Matthew J. McGinniss; Michael M. Kaback 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 251 KB 👁 2 views

A novel and unusual case of chronic gran

A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A220) leading to the activation of a cryptic splice site in intron

✍ Marie Stasia; Pierre Bordigoni; Cécile Martel; Françoise Morel 📂 Article 📅 2002 🏛 Springer 🌐 English ⚖ 185 KB