De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene
Adrenoleukodystrophy (ALD) is an X-linked disease, characterised by an alteration of the peroxisomal beta-oxidation of the very long chain fatty acids. The ALD gene has been identified and mutations have been detected in ALD patients. We report here a new missense mutation in the ALD gene of a male...
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| Veröffentlicht in: | Human genetics 1995-02, Vol.95 (2), p.235-237 |
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| container_title | Human genetics |
| container_volume | 95 |
| creator | BARCELO, A GIROS, M SARDE, C. O PINTOS, G MANDEL, J. L PAMPOLS, T ESTIVILL, X |
| description | Adrenoleukodystrophy (ALD) is an X-linked disease, characterised by an alteration of the peroxisomal beta-oxidation of the very long chain fatty acids. The ALD gene has been identified and mutations have been detected in ALD patients. We report here a new missense mutation in the ALD gene of a male patient, predicting a tyrosine to serine substitution at codon 174 (mutation Y174S). The mother of the ALD patient does not have the Y174S mutation in her leukocyte DNA, indicating that Y174S arose de novo in the patient. Y174S is the first reported de novo mutation in the ALD gene. |
| doi_str_mv | 10.1007/BF00209412 |
| format | Article |
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Y174S is the first reported de novo mutation in the ALD gene.</description><subject>adrenoleukodystrophy</subject><subject>Adrenoleukodystrophy - genetics</subject><subject>ALD gene</subject><subject>Base Sequence</subject><subject>Biochemistry, Molecular Biology</subject><subject>Biological and medical sciences</subject><subject>Child, Preschool</subject><subject>Errors of metabolism</subject><subject>Exons</subject><subject>Humans</subject><subject>Life Sciences</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>Male</subject><subject>man</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>missense mutant</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Polymerase Chain Reaction</subject><subject>X chromosome</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkc1LAzEQxYMotX5cvAs5iKiwmkmySXqs1apQUFAPnpZ0O7Gr203d7Ir9701pqUdPw8z7zfCGR8gRsEtgTF9dDxnjrCeBb5EuSMET4Exsky4TkiVKg94leyF8MAZpj6cd0tFGxcW0S55ukFb-29NZEQJWAemsbWxT-Iq-gZbPtKgo_sQOqHe0mSK1kxorX2L76SeL0NR-Pl3Qs_7o5py-Y4UHZMfZMuDhuu6T1-Hty-A-GT3ePQz6oyQXWjVJPtZSM4lWKmW0MdG8htTJ-IYxk7GwyvUcGp0KJ1DCWHFnLeicYVSc4mKfnK_uTm2ZzetiZutF5m2R3fdH2XLGhBGgUvENkT1dsfPaf7UYmix-m2NZ2gp9GzKtQRrBxL8gqIimoCJ4sQLz2odQo9tYAJYtM8n-Monw8fpqO57hZIOuQ4j6yVq3Ibelq22VF2GDCWF6XHPxC4utjyI</recordid><startdate>19950201</startdate><enddate>19950201</enddate><creator>BARCELO, A</creator><creator>GIROS, M</creator><creator>SARDE, C. 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The mother of the ALD patient does not have the Y174S mutation in her leukocyte DNA, indicating that Y174S arose de novo in the patient. Y174S is the first reported de novo mutation in the ALD gene.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>7860075</pmid><doi>10.1007/BF00209412</doi><tpages>3</tpages></addata></record> |
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| ispartof | Human genetics, 1995-02, Vol.95 (2), p.235-237 |
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| subjects | adrenoleukodystrophy Adrenoleukodystrophy - genetics ALD gene Base Sequence Biochemistry, Molecular Biology Biological and medical sciences Child, Preschool Errors of metabolism Exons Humans Life Sciences Lipids (lysosomal enzyme disorders, storage diseases) Male man Medical sciences Metabolic diseases missense mutant Molecular Sequence Data Mutation Polymerase Chain Reaction X chromosome |
| title | De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene |
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