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Exon Skipping in IVD RNA Processing in Isovaleric Acidemia Caused by Point Mutations in the Coding Region of the IVD Gene

โœ Scribed by Jerry Vockley; Peter K. Rogan; Bambi D. Anderson; Jan Willard; Ratnam S. Seelan; David I. Smith; Wanguo Liu


Book ID
117853150
Publisher
American Society of Human Genetics
Year
2000
Tongue
English
Weight
823 KB
Volume
66
Category
Article
ISSN
0002-9297

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โœ Makoto Daimon; Keiichi Yamatani; Masahiko Igarashi; Norio Fukase; Atsushi Ogawa; ๐Ÿ“‚ Article ๐Ÿ“… 1993 ๐Ÿ› Springer ๐ŸŒ English โš– 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