No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome.
Chiurazzi, P
No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome. [electronic resource] - American journal of medical genetics Jul 1994 - 309-14 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0148-7299
10.1002/ajmg.1320510405 doi
Child
Child, Preschool
DNA Mutational Analysis
Fragile X Mental Retardation Protein
Fragile X Syndrome--genetics
Genes--genetics
Genotype
Humans
Intellectual Disability--etiology
Male
Mutation
Nerve Tissue Proteins--biosynthesis
Pedigree
Phenotype
RNA, Messenger--metabolism
RNA-Binding Proteins
X Chromosome
No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome. [electronic resource] - American journal of medical genetics Jul 1994 - 309-14 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0148-7299
10.1002/ajmg.1320510405 doi
Child
Child, Preschool
DNA Mutational Analysis
Fragile X Mental Retardation Protein
Fragile X Syndrome--genetics
Genes--genetics
Genotype
Humans
Intellectual Disability--etiology
Male
Mutation
Nerve Tissue Proteins--biosynthesis
Pedigree
Phenotype
RNA, Messenger--metabolism
RNA-Binding Proteins
X Chromosome