机译：PHENOTYPE-GENOTYPE特点和基线自然历史造成的遗传疾病髓鞘蛋白0基因的突变
Nemours Childrens Hosp, Orlando, FL USA;
Childrens Hosp Westmead, Sydney, NSW, Australia;
Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USAUniv Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USAJohns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USAVanderbilt Univ, Dept Neurol, Nashville, TN 37235 USAUCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, EnglandChildrens Hosp Philadelphia, Neuromuscular Program, Philadelphia, PA 19104 USAStanford Univ, Dept Neurol, Stanford, CA 94305 USAUCL Inst Child Hlth, London, EnglandUniv Iowa Hosp & Clin, Dept Neurol, Iowa City, IA 52242 USAUniv Michigan, Dept Neurol, Ann Arbor, MI USAIRCCS Fdn, Carlo Besta Neurol Inst, Dept Neurol, Milan, Italy;
机译：Charcot-Marie-Tooth disease due to novel myelin protein zero mutation presenting as late-onset remitting sensory neuropathy.
机译：Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies
机译：Type I procollagen: The gene‐protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue
机译：mutation of the gene encoding a major outer-membrane protein in Xanthomonas campestris pv. campestris causes pleiotropic effects, including loss of pathogenicity
