Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder.

Journal of medical genetics

Volumn 42, Issue 12, 2005, Pages

  Kinning, E ^a   Tufarelli, C ^a   Winship, W S ^a   Aldred, M A ^a   Trembath, R C ^a  

^a UNIVERSITY OF LEICESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DYM PROTEIN, HUMAN; MESSENGER RNA; PROTEIN;

ARTICLE; BIOLOGICAL MODEL; CHONDRODYSPLASIA; FAMILY HEALTH; FEMALE; GENE DUPLICATION; GENETIC PREDISPOSITION; GENETICS; GENOMICS; HUMAN; MALE; METABOLISM; MUTATION; PEDIGREE; RECESSIVE GENE; SYNDROME;

FAMILY HEALTH; FEMALE; GENE DUPLICATION; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; GENOMICS; HUMANS; MALE; MODELS, GENETIC; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PROTEINS; RNA, MESSENGER; SYNDROME;

EID: 33746023645     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2005.033829     Document Type: Article

References (0)