Reply to: Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.
Center for Medical Genetics, Kanazawa Medical University Hospital, Ishikawa, Japan. Electronic address: niida@kanazawa-med.ac.jp.
Yo
Y
Niida
Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.
Ayano
A
Yokoi
Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.
Mondo
M
Kuroda
Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.
Yusuke
Y
Mitani
Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.
Hiroyasu
H
Nakagawa
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, Ishikawa, Japan.
Mamoru
M
Ozaki
D002878:Chromosomes, Human, Pair 1; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D024182:Uniparental Disomy
D008565:Membrane Proteins