Severe mental retardation and macroorchidism without mutation in the FMR1 gene

American Journal of Medical Genetics

Volumn 64, Issue 2, 1996, Pages 408-412

  Reyniers, Edwin ^a   Wolff, Gerhard ^b   Tariverdian, Gholamali ^c   De Boulle, Kristel ^a   Storm, Katrien ^a   Kooy, R Frank ^a   Willems, Patrick J ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

FMR1 gene; fragile X syndrome; KH domain; macroorchidism; RNA binding; X linked mental retardation

Indexed keywords

ARTICLE; FRAGILE X SYNDROME; GENE LOCATION; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; MACROORCHIDISM; MENTAL DEFICIENCY; MISSENSE MUTATION; OPEN READING FRAME; PRIORITY JOURNAL; PROTEIN DOMAIN; RNA BINDING; X CHROMOSOME LINKAGE;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME MAPPING; DNA PRIMERS; EXONS; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; HUMANS; LINKAGE (GENETICS); MALE; MENTAL RETARDATION; NERVE TISSUE PROTEINS; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REFERENCE VALUES; RNA-BINDING PROTEINS; TESTIS; TRINUCLEOTIDE REPEATS; X CHROMOSOME;

EID: 0029999788     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960809)64:2<408::AID-AJMG35>3.0.CO;2-H     Document Type: Article

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