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Identification of a New Transthyretin Variant (Ile49) in Familial Amyloidotic Polyneuropathy Using Electrospray Ionization Mass Spectrometry and Nonisotopic RNase Cleavage Assay
by
Nakamura, Masaaki
,
Yamashita, Taro
,
Ando, Yukio
,
Hamidi Asl, Kamran
,
Tashima, Kazuhiro
,
Ohlsson, Per-Ingvar
,
Kususe, Yukio
,
Benson, Merrill D.
Published in
Human heredity
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Human Heredity
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Amyloid Neuropathies - Genetics
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Electrospray Ionization Mass Spectrometry
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Familiar Amyloidotic Polyneuropathy
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Female
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Genetic Variation
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Genetics & Heredity
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Humans
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Ile49
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Life Sciences & Biomedicine
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Mass Spectrometry - Methods
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Nonisotopic Rnase Cleavage Assay
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Original Paper
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Polymerase Chain Reaction
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Prealbumin - Genetics
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Restriction Mapping
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Ribonucleases - Metabolism
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Rna, Messenger - Metabolism
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Science & Technology
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Sequence Analysis, Dna
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