TY  - GEN
AU  - Steinbach,P
AU  - Wöhrle,D
AU  - Tariverdian,G
AU  - Kennerknecht,I
AU  - Barbi,G
AU  - Edlinger,H
AU  - Enders,H
AU  - Götz-Sothmann,M
AU  - Heilbronner,H
AU  - Hosenfeld,D
TI  - Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families
SN  - 0340-6717
PY  - 1994///0105
KW  - Alternative Splicing
KW  - DNA
KW  - metabolism
KW  - DNA Mutational Analysis
KW  - Embryonic and Fetal Development
KW  - Female
KW  - Fragile X Mental Retardation Protein
KW  - Fragile X Syndrome
KW  - genetics
KW  - Gene Conversion
KW  - Gene Expression Regulation
KW  - Genes, Recessive
KW  - Heterozygote
KW  - Humans
KW  - Male
KW  - Methylation
KW  - Mosaicism
KW  - Mothers
KW  - Mutagenesis
KW  - Mutation
KW  - Nerve Tissue Proteins
KW  - Pedigree
KW  - Phenotype
KW  - Polymorphism, Restriction Fragment Length
KW  - RNA-Binding Proteins
KW  - Repetitive Sequences, Nucleic Acid
KW  - Restriction Mapping
KW  - Zygote
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/BF00216457
ER  -