Genotype-phenotype correlation in hereditary multiple exostoses

Hereditary multiple exostoses (HME) is a genetically heterogeneous autosomal dominant disorder characterised by the development of bony protuberances mainly located on the long bones. Three HME loci have been mapped to chromosomes 8q24 (EXT1), 11p11-13 (EXT2), and 19p (EXT3). The EXT1 and EXT2 genes...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Francannet, C, Cohen-Tanugi, A, Le Merrer, M, Munnich, A, Bonaventure, J, Legeai-Mallet, L
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Group 2001
Gaiak:
Original Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1757186/
https://ncbi.nlm.nih.gov/pubmed/11432960
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.7.430
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