Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease

Journal of Medical Genetics

Volumn 33, Issue 4, 1996, Pages 281-283

  Burlet, Philippe ^a   Bürglen, Lydie ^a   Clermont, Olivier ^a   Lefebvre, Suzie ^a   Viollet, Louis ^a   Munnich, Arnold ^a   Melki, Judith ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Large scale deletions; Werdnig Hoffmann disease

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 5Q; CONTROLLED STUDY; DISEASE CLASSIFICATION; DISEASE SEVERITY; GENE DELETION; GENE MAPPING; GENOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; WERDNIG HOFFMANN DISEASE;

EID: 0029880997     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.4.281     Document Type: Article

References (20)

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