Gene: [0Xq28/TAZ] tafazzin; endocardial fibroelastosis 1 (EFE1; endomyocardial fibroelastosis; EMFE; MIM:305300); endocardial fibroelastosis 2 (EFE2; contracted form; Barth syndrome); cardiomyopathy, dilated 3A (X-linked; MIM:300069); cardiomyopathy, mitochondrial, X-linked; 3-methylglutaconicaciduria, type II; [TFZ BTHS ]
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MUT |
In Barth syndrome gene Bione-1996 identified mutations which introduce stop codons in the open reading frame of different mRNAs produced by alternative splicing and abort translation of most of the putative proteins termed tafazzins (in honor Tafazzi, a masochistic comic character in an Italian television sports show)." |
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REF |
LIN,LOC "Ades LC &: Am J Med Genet, 45, 327-334, 1993 LIN,LOC "Ades LC &: CCG, 58, (HGM11), 2053-2053, 1991 PAT,PHE,FOG "Barth &: J Neurol Sci, 62, 327-355, 1983 PAT,PHE,FOG "Berko, Swift: New Engl J Med, 316, 1186-1191, 1987 CLO,SEQ,STR,MUT "Bione S &: Nature Genet, 12, N4, 385-389, 1996 LIN,LOC "Bolhuis PA &: AJHG, 48, 481-485, 1991 SEQ "Chen EY &: Hum Mol Genet, 5, N5, 659-668, 1996 PAT "Chitayat D &: J Inherit Metab Dis, 15, N2, 204-212, 1992 PAT,LIN,LOC "Christodoulou J &: Am J Med Genet, 50, N3, 255-264, 1994 MUT "D'Adamo P &: AJHG, 61, N4, 862-867, 1997 PAT "Dec GW, Fuster V: New Engl J Med, 331, N23, 1564-1575, 1994 HIS,PHE,FOG "Fixler DE &: Am J Cardiol, 26, 208-213, 1970 LIN,LOC "Gedeon AK &: J Med Genet, 32, 383-388, 1995 PAT,PHE,FOG "Hodgson S &: J Med Genet, 24, 210-214, 1987 HIS,PHE,FOG "Lindenbaum &: Brit Heart J, 35, 38-39, 1973 HIS,PHE,FOG "Moller &: Pediatrics, 38, 918-921, 1966 PAT,PHE,FOG "Neustein &: Arch Path Lab Med, 103, 214-219, 1979 LOC "Sedlacek Z &: Hum Mol Genet, 2, N11, 1865-1869, 1993 |
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CLA |
coding, basic |
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LOC |
0X q28 |
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MIM |
MIM: 302060 |
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SYN |
TFZ BTHS |
