fragile : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 2 페이지: 1

Fragile X Mental Retardation Protein - 새창 A RNA-binding protein that is found predominately in the CYTOPLASM. It helps regulate GENETIC TRANSLATION in NEURONS and is absent or under-expressed in FRAGILE X SYNDROME.
Synonyms : FMRP Protein, Fragile X Mental Retardation-1 Protein, Fragile X Mental Retardation 1 Protein
Fragile X Syndrome - 새창 A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. MENTAL RETARDATION occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
Synonyms : FRAXA Syndromes, FRAXE Syndromes, Fragile X Syndromes, Martin Bell Syndrome, Syndrome, FRAXA, Syndrome, FRAXE, Syndrome, Fragile X, Syndrome, Martin-Bell, Syndromes, FRAXA, Syndromes, FRAXE, Syndromes, Fragile X