TY - GEN AU - Lugenbeel,K A AU - Peier,A M AU - Carson,N L AU - Chudley,A E AU - Nelson,D L TI - Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome SN - 1061-4036 PY - 1995///1018 KW - Amino Acid Sequence KW - Base Sequence KW - Cell Line, Transformed KW - DNA KW - Fragile X Mental Retardation Protein KW - Fragile X Syndrome KW - genetics KW - Humans KW - Male KW - Molecular Sequence Data KW - Nerve Tissue Proteins KW - Point Mutation KW - RNA-Binding Proteins N1 - Publication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S UR - https://doi.org/10.1038/ng0895-483 ER -