Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency

por Dias, R P, Chan, L F, Metherell, L A, Pearce, S H S, Clark, A J L
Publicado 2010

Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction

por Maharaj, A., Williams, J., Bradshaw, T., Güran, T., Braslavsky, D., Casas, J., Chan, L.F., Metherell, L.A., Prasad, R.
Publicado 2020

Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein

por Jain, V, Metherell, L A, David, A, Sharma, R, Sharma, P K, Clark, A J L, Chan, L F
Publicado 2011

Loss of Mrap2 is associated with Sim1 deficiency and increased circulating cholesterol

por Novoselova, T V, Larder, R, Rimmington, D, Lelliott, C, Wynn, E H, Gorrigan, R J, Tate, P H, Guasti, L, O’Rahilly, S, Clark, A J L, Logan, D W, Coll, A P, Chan, L F
Publicado 2016