Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.

Journal of medical genetics

Volumn 40, Issue 6, 2003, Pages

  Ars, E ^a   Kruyer, H ^a   Morell, M ^a   Pros, E ^a   Serra, E ^a   Ravella, A ^a   Estivill, X ^a   Lazaro C ^a  

^a HOSPITAL DURAN I REYNALS   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; NEUROFIBROMIN;

ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ARTICLE; CAFE AU LAIT SPOT; CHEMISTRY; CHILD; GENETIC VARIABILITY; GENETICS; GENOTYPE; HUMAN; INFANT; LEARNING DISORDER; MENTAL DEFICIENCY; MUTATION; NEUROFIBROMA; NEUROFIBROMATOSIS; NEWBORN; OPTIC NERVE GLIOMA; PHENOTYPE; PRESCHOOL CHILD; RECURRENT DISEASE; RNA PROCESSING; SCOLIOSIS; SKIN TUMOR; TUMOR SUPPRESSOR GENE;

ALTERNATIVE SPLICING; AMINO ACID SUBSTITUTION; CAFE-AU-LAIT SPOTS; CHILD; CHILD, PRESCHOOL; DNA; GENES, NEUROFIBROMATOSIS 1; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; LEARNING DISORDERS; MENTAL RETARDATION; MUTATION; NEUROFIBROMA; NEUROFIBROMA, PLEXIFORM; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; OPTIC NERVE GLIOMA; PHENOTYPE; RECURRENCE; RNA PROCESSING, POST-TRANSCRIPTIONAL; SCOLIOSIS; SKIN NEOPLASMS; VARIATION (GENETICS);

MLCS; MLOWN;

EID: 0038481667     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.40.6.e82     Document Type: Article

References (0)