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Volumn 59, Issue 3, 2012, Pages 413-415

A novel homozygous mutation in the WNK1/HSN2 gene causing: Hereditary sensory neuropathy type 2

Author keywords

Autonomic; Hereditary; Mutation; Sensory neuropathy; Sympathetic skin response

Indexed keywords


EID: 84873742991     PISSN: 0001527X     EISSN: 1734154X     Source Type: Journal    
DOI: 10.18388/abp.2012_2131     Document Type: Article
Times cited : (10)

References (13)
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    • Real-time quantitative polymerase chain reaction A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies
    • Aarskog NK, Vedeler CA (2000) Real-time quantitative polymerase chain reaction A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Hum Genet 107: 494-498.
    • (2000) Hum Genet , vol.107 , pp. 494-498
    • Aarskog, N.K.1    Vedeler, C.A.2
  • 4
    • 30344445984 scopus 로고    scopus 로고
    • Quantitative studies of autonomic function
    • Hilz MJ, Dutsch M (2006) Quantitative studies of autonomic function. Muscle Nerve 33: 6-20.
    • (2006) Muscle Nerve , vol.33 , pp. 6-20
    • Hilz, M.J.1    Dutsch, M.2
  • 5
    • 0033549077 scopus 로고    scopus 로고
    • Sympathetic skin response differentiates hereditary sensory autonomic neuropathies III and IV
    • Hilz MJ, Stemper B, Axelrod FB (1999) Sympathetic skin response differentiates hereditary sensory autonomic neuropathies III and IV. Neurology 52: 1652-1657.
    • (1999) Neurology , vol.52 , pp. 1652-1657
    • Hilz, M.J.1    Stemper, B.2    Axelrod, F.B.3
  • 6
    • 0017135522 scopus 로고
    • Recessive hereditary sensory neuropathy
    • Jedrzejowska H, Milczarek H (1976) Recessive hereditary sensory neuropathy. J Neurol Sci 29: 371-387.
    • (1976) J Neurol Sci , vol.29 , pp. 371-387
    • Jedrzejowska, H.1    Milczarek, H.2
  • 8
    • 0013049486 scopus 로고
    • A familial peripheral neuropathy of unknown etiology resembling Morvan's disease
    • Ogryzlo MA (1946) A familial peripheral neuropathy of unknown etiology resembling Morvan's disease. Can Med Assoc J 54: 547-553.
    • (1946) Can Med Assoc J , vol.54 , pp. 547-553
    • Ogryzlo, M.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.