Giant axonal neuropathy: clinical and genetic study in six cases

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Atıf İçin Kopyala

DEMIR E., BOMONT P., ERDEM S., CAVALIER L., DEMIRCI M., KOSE G., ...Daha Fazla

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, cilt.76, sa.6, ss.825-832, 2005 (SCI-Expanded)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 76 Sayı: 6
• Basım Tarihi: 2005
• Doi Numarası: 10.1136/jnnp.2003.035162
• Dergi Adı: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Sayfa Sayıları: ss.825-832
• Hacettepe Üniversitesi Adresli: Evet

Özet

Background: Giant axonal neuropathy (GAN) is a severe recessive disorder characterised by variable combination of progressive sensory motor neuropathy, central nervous system (CNS) involvement, and "frizzly'' hair. The disease is caused by GAN gene mutations on chromosome 16q24.1.