Your browser doesn't support javascript.
loading
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.
Hamanaka, Kohei; Miyatake, Satoko; Zerem, Ayelet; Lev, Dorit; Blumkin, Luba; Yokochi, Kenji; Fujita, Atsushi; Imagawa, Eri; Iwama, Kazuhiro; Nakashima, Mitsuko; Mitsuhashi, Satomi; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Saitsu, Hirotomo; van der Knaap, Marjo S; Lerman-Sagie, Tally; Matsumoto, Naomichi.
Affiliation
  • Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Zerem A; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
  • Lev D; Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, and Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.
  • Blumkin L; Institute of Medical Genetics, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, and Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.
  • Yokochi K; Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, and Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.
  • Fujita A; Department of Pediatric Neurology, Mikatahara General Hospital, Hamamatsu, Japan.
  • Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Iwama K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Mitsuhashi S; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan.
  • Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • van der Knaap MS; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan.
  • Lerman-Sagie T; Department of Child Neurology, VU University Medical Centre, Amsterdam, Netherlands.
  • Matsumoto N; Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, and Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.
J Hum Genet ; 63(12): 1223-1229, 2018 Dec.
Article in En | MEDLINE | ID: mdl-30258207
Subject(s)
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Carrier Proteins / Hereditary Central Nervous System Demyelinating Diseases / Mutation Limits: Adult / Female / Humans / Male Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Carrier Proteins / Hereditary Central Nervous System Demyelinating Diseases / Mutation Limits: Adult / Female / Humans / Male Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Country of publication: