TY - GEN AU - Lebel,R R AU - May,M AU - Pouls,S AU - Lubs,H A AU - Stevenson,R E AU - Schwartz,C E TI - Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene SN - 0009-9163 PY - 2002///0819 KW - Adult KW - Exons KW - Family Health KW - Female KW - Gene Silencing KW - Guanine Nucleotide Exchange Factors KW - Humans KW - Intellectual Disability KW - genetics KW - Leucine KW - metabolism KW - Male KW - Mutation KW - Mutation, Missense KW - Pedigree KW - Polymorphism, Single-Stranded Conformational KW - Proteins KW - Syndrome KW - X Chromosome KW - src Homology Domains N1 - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S UR - https://doi.org/10.1034/j.1399-0004.2002.610209.x ER -