[Encephalopathy related to X fragility: neither inactivation nor deletion of the distal fragment q28 to qter. Enzymatic and morphometric evidence]

Autor:	Jalbert H, Ma, Baeteman, Trochet-Royer C, Mg, Mattei, Jf, Mattei, Leroux D, Jalbert P
Jazyk:	francouzština
Rok vydání:	1983
Předmět:	Adult Male Erythrocytes X Chromosome Chromosome Fragile Sites Chromosome Fragility Glucosephosphate Dehydrogenase Fragile X Syndrome Intellectual Disability Humans Female Chromosome Deletion Enzyme Repression Child Sex Chromosome Aberrations
Zdroj:	Europe PubMed Central
ISSN:	0021-7743
Popis:	Hypothesis on the nature of the fragile site Xq28 and its relations with the specific phenotype are discussed. The roles of a local inactivation (tested by G6-PD activity in 9 patients) or of a deletion Xq28 leads to qter (studied by morphometric evaluations on 2 patients and their heterozygotic mother) are not confirmed.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::aa9d64d57d0d881f0b1ea558be83fde8 https://pubmed.ncbi.nlm.nih.gov/6631423 Zobrazit plný text záznamu