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Volumn 883, Issue , 1999, Pages 500-503

HMSA and HNPP: Laboratory service provision in the South West of England - Two years' experience

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 32; GAP JUNCTION PROTEIN; MYELIN PROTEIN; PMP22 PROTEIN, HUMAN;

EID: 0033554311     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.1999.tb08621.x     Document Type: Article
Times cited : (8)

References (8)
  • 1
    • 0029863589 scopus 로고    scopus 로고
    • Estimation of mutation frequencies in CMT type I and HNPP: A European collaborative study
    • NELIS, E. & C. VAN BROECKHOVEN. 1996. Estimation of mutation frequencies in CMT type I and HNPP: a European collaborative study. Eur. J. Hum Genet. 4: 25-33.
    • (1996) Eur. J. Hum Genet. , vol.4 , pp. 25-33
    • Nelis, E.1    Van Broeckhoven, C.2
  • 2
    • 0025997898 scopus 로고
    • Duplication in chromosome 17p11.2 in CMT1a
    • RAEYMAKERS, P., et al. 1991. Duplication in chromosome 17p11.2 in CMT1a. Neuromusc. Disord. 1: 93-97.
    • (1991) Neuromusc. Disord. , vol.1 , pp. 93-97
    • Raeymakers, P.1
  • 3
    • 0025868571 scopus 로고
    • DNA duplication associated with CMT 1A
    • LUPSKI, J., et al. 1991. DNA duplication associated with CMT 1A. Cell 66: 219-232.
    • (1991) Cell , vol.66 , pp. 219-232
    • Lupski, J.1
  • 4
    • 0025158560 scopus 로고
    • A genetic map of human chromosome 17p
    • WRIGHT, E., et al. 1990. A genetic map of human chromosome 17p. Genomics 7: 103-109.
    • (1990) Genomics , vol.7 , pp. 103-109
    • Wright, E.1
  • 5
    • 0026564694 scopus 로고
    • Estimation of size of the 17p11.2 duplication in CMT1a
    • RAEYMAKERS, P., et al. 1992. Estimation of size of the 17p11.2 duplication in CMT1a. J. Med. Genet. 29: 5-11.
    • (1992) J. Med. Genet. , vol.29 , pp. 5-11
    • Raeymakers, P.1
  • 6
    • 0028231090 scopus 로고
    • The 1993-1994 Genethon human genetic linkage map
    • GYAPAY, G., et al. 1994. The 1993-1994 Genethon human genetic linkage map. Nat. Genet. 7: 246-339.
    • (1994) Nat. Genet. , vol.7 , pp. 246-339
    • Gyapay, G.1
  • 7
    • 16944365439 scopus 로고    scopus 로고
    • Detection of CMT1a/HNPP recombination hotspot in unrelated patients of European descent
    • TIMMERMAN, V., et al. 1997. Detection of CMT1a/HNPP recombination hotspot in unrelated patients of European descent. J. Med Genet. 34: 43-49.
    • (1997) J. Med Genet. , vol.34 , pp. 43-49
    • Timmerman, V.1
  • 8
    • 84984760579 scopus 로고    scopus 로고
    • Sex dependent rearrangements resulting in CMT1a and HNPP
    • LOPES, J., et al. 1998. Sex dependent rearrangements resulting in CMT1a and HNPP. Nat. Genet. 17: 136-137.
    • (1998) Nat. Genet. , vol.17 , pp. 136-137
    • Lopes, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.