Genotype-phenotype correlation in hereditary multiple exostoses

Journal of Medical Genetics

Volumn 38, Issue 7, 2001, Pages 430-434

  Francannet, C ^a   Cohen Tanugi, A ^b   Le Merrer, M ^b   Munnich, A ^b   Bonaventure, J ^b   Legeai Mallet, L ^b  

^a HÔTEL DIEU   (France)

^b INSERM   (France)

Author keywords

Chondrosarcoma; EXT1; EXT2; Hereditary multiple exostoses

Indexed keywords

GENE PRODUCT; PROTEIN EXT1; PROTEIN EXT2; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 11P; CHROMOSOME 19P; CHROMOSOME 8Q; CORRELATION FUNCTION; FEMALE; FRAMESHIFT MUTATION; FRANCE; GENE LOCUS; GENE MAPPING; GENOTYPE; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; MALIGNANT TRANSFORMATION; MISSENSE MUTATION; NONSENSE MUTATION; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0034945580     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.38.7.430     Document Type: Article

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