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1.	Pellegrini, C, et al. (author) MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort 2019 In: The Lancet. Child & adolescent health. - 2352-4650. ; 3:5, s. 332-342 Journal article (peer-reviewed)
2.	Laurell, H, et al. (author) The hormone-sensitive lipase (LIPE) gene located on chromosome 19q13.1-->13.2 is not duplicated on 19p13.3 1995 In: International Journal of Obesity. - 1476-5497. ; 19:8, s. 590-592 Journal article (peer-reviewed)abstract The existence of a DNA polymorphism at the hormone-sensitive lipase locus could be of great interest for genetic analysis of obesity and related disorders since hormone-sensitive lipase is the rate-limiting enzyme of adipose tissue lipolysis and therefore plays a key role in energy metabolism. The polymorphic dinucleotide repeat D19S120 was identified within a human genomic clone selected with a rat hormone-sensitive lipase cDNA. This marker was subsequently localized to the short arm of chromosome 19 (p13.3) whereas human hormone-sensitive lipase (LIPE) had been mapped to the long arm of chromosome 19 (q13.1-->13.2). A duplication of the hormone-sensitive lipase gene or the presence of a pseudogene could explain the discrepancy. Cosmids from the two regions were analyzed in Southern blot experiments. A human adipose tissue hormone-sensitive lipase full-length cDNA probe hybridized only to cosmids from the 19q13.1-->13.2 region whereas the D19S120 amplicon probe hybridized only to cosmids from the p13.3 region. These data show that the occurrence of gene duplication or the presence of a pseudogene on the short arm of chromosome 19 is very unlikely and that D19S120 is unrelated to the hormone-sensitive lipase gene.
3.	Ganshani, S, et al. (author) Human calcium-activated potassium channel gene, hKCa4 on human chromosome 19q13.2 in region deleted in Diamond-Blackfan anemia. 1998 In: Genomics. ; 51, s. 160- Journal article (peer-reviewed)

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Type of publication: journal article (3)

Type of content: peer-reviewed (3)

Author/Editor: Ferrari, A. (1); Roy, P. (1); Kumar, R. (1); Thomas, N (1); Sacerdote, C. (1); Puig, S (1); show more...; Tosti, G. (1); Hansson, J. (1); Liu, F. (1); Anton-Culver, H (1); Autier, P (1); Ferrucci, L (1); Hofman, A (1); Uitterlinden, AG (1); Laurell, H. (1); Gustavsson, P (1); DAHL, N (1); Stenson, Lena (1); Walker, A (1); Ribas, G (1); Gruber, SB (1); Giudice, G. (1); Coleman, M (1); Langin, D (1); Bressac-de Pailleret ... (1); Little, J. (1); Aguilera, P (1); Pfeiffer, R (1); Rebbeck, T (1); Pellegrini, C. (1); Maisonneuve, P (1); Palmieri, G (1); Pastorino, L (1); Landi, MT (1); Ghiorzo, P (1); Hoiom, V (1); Holm, C (1); Dwyer, T. (1); Mujumdar, U (1); Ayala, F (1); Northrup, D (1); Chowdhury, N. (1); Berwick, M. (1); Raimondi, S (1); Gandini, S (1); Sera, F. (1); Busam, K. (1); Massi, D. (1); Gallagher, RP (1); Bishop, T (1); show less...

University: Uppsala University (1); Lund University (1); Karolinska Institutet (1)

Language: English (3)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

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