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23. Establishment of a non-integrated iPSC line (SDQLCHi043-A) from a male infant with propionic acidemia carrying compound heterozygote mutations in PCCB gene. Li Z; Liu C; Xin H; Lv Y; Gao M; Ma J; Liu N; Gai Z; Liu Y Stem Cell Res; 2024 Apr; 76():103352. PubMed ID: 38394970 [TBL] [Abstract][Full Text] [Related]
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25. Propionic acidemia in the Arab World. Zayed H Gene; 2015 Jun; 564(2):119-24. PubMed ID: 25865301 [TBL] [Abstract][Full Text] [Related]
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36. A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue. Kurolap A; Barel D; Shaul Lotan N; Wexler I; Chai Gadot C; Mory A; Barel O; Almashanu S; Baris Feldman H Mol Genet Metab; 2023 Nov; 140(3):107702. PubMed ID: 37776842 [TBL] [Abstract][Full Text] [Related]
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40. Mutations participating in interallelic complementation in propionic acidemia. Gravel RA; Akerman BR; Lamhonwah AM; Loyer M; Léon-del-Rio A; Italiano I Am J Hum Genet; 1994 Jul; 55(1):51-8. PubMed ID: 8023851 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]