DNA probes in Charcot-Marie-Tooth neuropathy


Autoria(s): Nicholson, G. A.; Griffiths, Lyn R.; McLeod, J. G.
Data(s)

1988

Resumo

Results of Duffy (Fy) linkage confirm genetic heterogeneity in Charcot-Marie-Tooth disease type 1 (CMT1). Of 11 families informative for Fy, four showed probable linkage with CMT1, seven showed probable non-linkage and two showed definite non-linkage. These results suggest that Fy linked CMT1 may be less common than previously thought. These results combined with those of another DNA probe for the antithrombin III gene confirm that there are at least two gene loci for CMT1, termed 1A and 1B.

Identificador

http://eprints.qut.edu.au/63148/

Publicador

Australian Paediatric Association

Relação

http://www.scopus.com/inward/record.url?eid=2-s2.0-0023709335&partnerID=40&md5=d388ef1e28d8170a51c7a2b604dc78b5

Nicholson, G. A., Griffiths, Lyn R., & McLeod, J. G. (1988) DNA probes in Charcot-Marie-Tooth neuropathy. Australian Paediatric Journal, 24(SUPPL.), pp. 90-91.

Direitos

Copyright 1988 Australian Paediatric Association

Fonte

Institute of Health and Biomedical Innovation

Palavras-Chave #dna #blood group duffy system #clinical article #gene locus #genetic heterogeneity #hereditary motor sensory neuropathy #heredity #human #priority journal #Charcot-Marie-Tooth Disease #Chromosomes #Human #Pair 1 #DNA Probes #Genetic Markers #Human #Linkage (Genetics) #Muscular Atrophy #Spinal #Support #Non-U.S. Gov't
Tipo

Journal Article