1 | FACM, FAN1, RAD51C
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| Expanded roles of the Fanconi anemia pathway in preserving genomic stability.
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| Kee Y, D'Andrea AD.
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| Genes Dev 24(16):1680-94. Review.PMID: 20713514 2010
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2 | FACM, TTR
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| Three siblings of familial amyloid cardiomyopathy with isoleucine-50 transthyretin mutation.
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| Sadamatsu K, Hayashi Y, Nakamura M.
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| Int J Cardiol 61(2):151-5. 1997
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3 | FACM, TTR
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| Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis.
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| Jacobson DR, et al.
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| Hum Mutat 3 : 399-401. 1994
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4 | APF, FACM, TTR
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| A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis.
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| Ferlini A, et al.
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| Hum Mutat 4 : 61-64. 1994
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5 | FACM, TTR
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| Retrospective molecular detection of transhyretin Met 111 mutation in a Danish kindred with familial amyloid cardiomyopathy, using DNA from formalin-fixed and paraffin-embedded tissues.
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| Nordvag BY, et al.
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| Hum Genet 92 : 265-268. 1993
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6 | FACM, TTR
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| Molecular diagnosis of the transthyretin (TTR) Met111 mutation in familial amyloid cardiomyopathy of Danish origin.
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| NordvŠg BY, et al.
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| Hum Genet 89 : 459-461. 1992
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