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A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect

✍ Scribed by Silvia Vettore; Daniela De Rocco; Bernhard Gerber; Raffaella Scandellari; Anna Monica Bianco; Carlo L. Balduini; Alessandro Pecci; Fabrizio Fabris; Anna Savoia


Book ID
116433282
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
620 KB
Volume
53
Category
Article
ISSN
1769-7212

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Acute intermittent porphyria caused by a
✍ Makoto Daimon; Keiichi Yamatani; Masahiko Igarashi; Norio Fukase; Atsushi Ogawa; πŸ“‚ Article πŸ“… 1993 πŸ› Springer 🌐 English βš– 876 KB

Genomic DNA from a patient with acute intermittent porphyria were analyzed by the polymerase chain reaction (PCR)-direct sequencing method. The patient was heterozygote for a point mutation G to C at the last position of exon 12 of the porphobilinogen deaminase (PBG-D) gene. Analysis of the eDNA fra