Učitavanje...

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.

The fragile X mental retardation syndrome is caused by unstable expansion of a CGG repeat. Two main types of mutation have been categorised. Clinical expression is associated with the presence of the full mutation, while subjects who carry only a premutation do not have mental retardation. Premutati...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:J Med Genet
Glavni autori: Heitz, D, Devys, D, Imbert, G, Kretz, C, Mandel, J L
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 1992
Teme:
Online pristup:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016175/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1453430/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.29.11.794
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!