Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance.

Mutations in the insulin receptor gene can cause genetic syndromes such as leprechaunism that are associated with extreme insulin resistance. We have investigated a patient with leprechaunism born of a consanguineous marriage. All 22 exons of the insulin receptor gene were screened for mutations usi...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Hone, J, Accili, D, al-Gazali, L I, Lestringant, G, Orban, T, Taylor, S I
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1994
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050083/
https://ncbi.nlm.nih.gov/pubmed/7815442
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