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A patient with a de novo t (6;9) and an interstitial duplication of (9)(q21.2q22.1)

Autor: M F, Mohrschladt, E K, Bijlsma, S, Sluijter, R F, De Coo, J M, Hoovers, N J, Leschot

Publikováno v: Clinical dysmorphology. 8(3)

We report on a 4-year-old child with psychomotor retardation, general hypotonia and only mild dysmorphic features. Her chromosome constitution was 46,XX, t (6;9) (q27;q22.1), dup (9) (q21.2q22.1). This de novo interstitial duplication was confirmed u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d1e0f3aa1420be62248fde1c69d6981e
https://pubmed.ncbi.nlm.nih.gov/10457857

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The structure of the human NDUFV1 gene encoding the 51-kDa subunit of mitochondrial complex I

Autor: R F, de Coo, P A, Buddiger, H J, Smeets, B A, van Oost

Publikováno v: Mammalian genome : official journal of the International Mammalian Genome Society. 10(1)

The genomic organization of the human 51-kDa subunit gene (NDUFV1) on human Chromosome (Chr) 11q13 was determined. The NDUFV1 gene consists of 10 exons. Exon 1 encodes for the 20-amino-acids-long import sequence, and exon 1 through 10 codes for the 4

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::44322abd2a80ef6b9b0117f129afa79b
https://pubmed.ncbi.nlm.nih.gov/9892733

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