Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. [electronic resource]
- Clinical genetics Feb 2002
- 139-45 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0009-9163
10.1034/j.1399-0004.2002.610209.x doi
Adult Exons Family Health Female Gene Silencing Guanine Nucleotide Exchange Factors Humans Intellectual Disability--genetics Leucine--metabolism Male Mutation Mutation, Missense Pedigree Polymorphism, Single-Stranded Conformational Proteins--genetics Syndrome X Chromosome src Homology Domains