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Mutation update: the spectra of nebulin variants and associated myopathies.
Lehtokari VL, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs AH, Clarke NF, North KN, Laing NG, Romero NB, Winder TL, Pelin K, Wallgren-Pettersson C. Lehtokari VL, et al. Among authors: barth pg. Hum Mutat. 2014 Dec;35(12):1418-26. doi: 10.1002/humu.22693. Hum Mutat. 2014. PMID: 25205138 Free PMC article.
X chromosome inactivation in carriers of Barth syndrome.
Orstavik KH, Orstavik RE, Naumova AK, D'Adamo P, Gedeon A, Bolhuis PA, Barth PG, Toniolo D. Orstavik KH, et al. Among authors: barth pg. Am J Hum Genet. 1998 Nov;63(5):1457-63. doi: 10.1086/302095. Am J Hum Genet. 1998. PMID: 9792874 Free PMC article.
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.
Zhang Z, Suzuki Y, Shimozawa N, Fukuda S, Imamura A, Tsukamoto T, Osumi T, Fujiki Y, Orii T, Wanders RJ, Barth PG, Moser HW, Paton BC, Besley GT, Kondo N. Zhang Z, et al. Among authors: barth pg. Hum Mutat. 1999;13(6):487-96. doi: 10.1002/(SICI)1098-1004(1999)13:6<487::AID-HUMU9>3.0.CO;2-T. Hum Mutat. 1999. PMID: 10408779
Two intronic mutations in the adrenoleukodystrophy gene.
Kemp S, Ligtenberg MJ, van Geel BM, Barth PG, Sarde CO, van Oost BA, Bolhuis PA. Kemp S, et al. Among authors: barth pg. Hum Mutat. 1995;6(3):272-3. doi: 10.1002/humu.1380060316. Hum Mutat. 1995. PMID: 8535452 No abstract available.
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.
D'Adamo P, Fassone L, Gedeon A, Janssen EA, Bione S, Bolhuis PA, Barth PG, Wilson M, Haan E, Orstavik KH, Patton MA, Green AJ, Zammarchi E, Donati MA, Toniolo D. D'Adamo P, et al. Among authors: barth pg. Am J Hum Genet. 1997 Oct;61(4):862-7. doi: 10.1086/514886. Am J Hum Genet. 1997. PMID: 9382096 Free PMC article.
222 results