del Giudice et al., 2001  Single-strand conformation polymorphism and automatic sequencing  Italian (230)  Obese (130) and non-obese controls (100)  Leu34Phe missense mutation in pro-CART (729G>C in exon 2)  A large family of obese subjects across three generations  Hyperphagia and severe early-onset obesity even when heterozygous for allele  Altered post-translational processing; intracellular missorting of proCART; bioactive CART deficiency in the serum; ↑ serum leptin levels  ↓ Resting metabolic rates; linked to type II diabetes