Steinbach, P

Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families. [electronic resource] - Human genetics Nov 1993 - 491-8 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0340-6717

10.1007/BF00216457 doi


Alternative Splicing
DNA--metabolism
DNA Mutational Analysis
Embryonic and Fetal Development
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome--genetics
Gene Conversion
Gene Expression Regulation
Genes, Recessive
Heterozygote
Humans
Male
Methylation
Mosaicism
Mothers
Mutagenesis
Mutation--genetics
Nerve Tissue Proteins--genetics
Pedigree
Phenotype
Polymorphism, Restriction Fragment Length
RNA-Binding Proteins
Repetitive Sequences, Nucleic Acid
Restriction Mapping
Zygote