A Huebner

Missense mutations of ACTA1 cause dominant congenital myopathy with cores

H. Goebel, H. Lochmüller, F. Rüschendorf, 2004, Journal of Medical Genetics.

ACTH resistance syndromes.

A. Clark, A. Huebner, A Huebner, 1999, Journal of pediatric endocrinology & metabolism : JPEM.

Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.

S. Hennig, S. Sperling, A. Huebner, 2001, Human molecular genetics.

High-resolution transcript map of the region spanning D12S1629 and D12S312 at chromosome 12q13: triple A syndrome-linked region.

R Kucherlapati, R. Kucherlapati, K. Montgomery, 2000, Genome research.