𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of three novel mutations in the MYO7A gene

✍ Scribed by José M. Cuevas; C. Espinós; J.M. Millán; F. Sánchez; M.J. Trujillo; C. Ayuso; M. Beneyto; C. Nájera

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
96 KB
Volume
14
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. These mutations are K1080X in exon 25, E1170K in exon 28, and Y1719C in exon 37. It is presumed that these mutations are involved in the Usher syndrome Ib phenotype.

📜 SIMILAR VOLUMES

Three novel mutations in the coproporphy
Three novel mutations in the coproporphyrinogen oxidase gene
✍ Jérôme Lamoril; Jean-Charles Deybach; Hervé Puy; Bernard Grandchamp; Yves Nordma 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 109 KB 👁 1 views

Three unrelated patients with HC were studied. The diagnosis of coproporphyria was based on the observation of typical clinical manifestations, increased excretions of Ç-aminolevulinic acid and porphobilinogen in urine and coproporphyrin III in both feces and urine, and 50% decreased COX activity in

Mutational-screening in the factor VIII
Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation
✍ Katharina Möller-Morlang; Kamiab Tavassoli; Antonin Eigel; Hartmut Pollmann; Jür 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 1 views

Hemophilia A is an X-linked bleeding disease caused by mutations in the coagulation factor VIII gene. The identification and characterization of pathogenic mutations allows the recognition of new mechanisms of functional disturbances of factor VIII. To screen for mutations exons 1-26 of the factor V

Identification of three novel mutations
Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure
✍ Christèle Dubourg; Sylvie Odent; Patricia Fergelot; Jean-Yves Le Gall; Véronique 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 115 KB 👁 2 views

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked neuromuscular disorders associated with alterations in the dystrophin gene. Analysis of 45 DMD/BMD patients has identified 18 patients with no deletion in the dystrophin gene. Heteroduplex analysis (HD), single strand