- Tytuł:
-
Phenotypic heterogeneity in British patients with a founder
mutation in the FHL1 gene. - Autorzy:
- Źródło:
- European journal of human genetics : EJHG [Eur J Hum Genet] 2011 Oct; Vol. 19 (10), pp. 1038-44. Date of Electronic Publication: 2011 Jun 01.
- Typ publikacji:
- Journal Article; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Founder Effect*
Genetic Diseases, X-Linked/*pathology
Intracellular Signaling Peptides and Proteins/*genetics
LIM Domain Proteins/*genetics
Muscle Proteins/*genetics
Muscular Diseases/*pathologyMutation /*genetics
Adult ; Biopsy ; Exons ; Family ; Female ; Genetic Diseases, X-Linked/genetics ; Genetic Diseases, X-Linked/metabolism ; Haplotypes ; Humans ; Male ; Middle Aged ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Muscular Diseases/genetics ; Muscular Diseases/metabolism ; Muscular Diseases/physiopathology ; Pedigree ; Phenotype ; United Kingdom
Czasopismo naukowe