Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP

European Journal of Human Genetics

Volumn 18, Issue 9, 2010, Pages 1070-

  Aretz, Stefan ^a   Rautenstrauß, Bernd ^b   Timmerman, Vincent ^c  

^a UNIVERSITY OF BONN   (Germany)

^b Medical Genetic Center   (Germany)

^c UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN 1;

ANALYTIC METHOD; CHROMOSOME ANALYSIS; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DNA DETERMINATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC RISK; GENETIC SCREENING; HUMAN; MARFAN SYNDROME; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SHORT SURVEY; ARTICLE; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; MUTATION;

HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; MUTATION;

EID: 77955985456     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.75     Document Type: Short Survey

References (2)

1. Timmerman V, Lupski JR, De Jonghe P: Molecular genetics, biology, and therapy for inherited peripheral neuropathies. Neuromolecular Med 2006; 8: 1-2.
2. Timmerman V, Lupski JR: The CMT1A duplication and HNPP deletion; in Lupski JR, Stankiewicz P (eds): Genomic Disorders: The Genomic Basis of Disease. Totowa, NJ, USA: Humana Press, 2006, pp 169-178.