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pro vyhledávání: '"T J L, de Ravel"'
Publikováno v:
Clinical genetics. 61(3)
The apparent low incidence of colon cancer in the Black population of South Africa has been ascribed to a non-Western diet. The present authors report the identification of two common 5-bp deletions at codons 1309 and 1061 of the adenomatous polyposi
Autor:
T. J. L. De Ravel, L. Groop, R. M. Blizzard, B. Ramel, Melissa A. Prince, John A. Phillips, M. Lehto, Joy D. Cogan, M. Brammert
Familial isolated GH deficiency type II (IGHD-II) is an autosomal dominant disorder that has been previously shown in some patients to be caused by heterogeneous GH gene defects that affect GH messenger RNA (mRNA) splicing. We report here our finding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d925f3d9c8736e26d169f6b331c74107
https://biblio.vub.ac.be/vubir/a-recurring-dominant-negative-mutation-causes-autosomal-dominant-growth-hormone-deficiencya-clinical-research-center-study(c5b72b29-4b0c-4258-9a0b-946310712c05).html
https://biblio.vub.ac.be/vubir/a-recurring-dominant-negative-mutation-causes-autosomal-dominant-growth-hormone-deficiencya-clinical-research-center-study(c5b72b29-4b0c-4258-9a0b-946310712c05).html