Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V

American Journal of Human Genetics

Volumn 72, Issue 5, 2003, Pages 1293-1299

  Antonellis, Anthony ^a,d   Ellsworth, Rachel E ^a   Sambuughin, Nyamkhishig ^j   Puls, Imke ^b   Abel, Annette ^b   Lee Lin, Shih Queen ^a   Jordanova, Albena ^e   Kremensky, Ivo ^e   Christodoulou, Kyproula ^f   Middleton, Lefkos T ^f   Sivakumar, Kumaraswamy ^c   Ionasescu, Victor ^g   Funalot, Benoit ^h   Vance, Jeffery M ⁱ   Goldfarb, Lev G ^c   Fischbeck, Kenneth H ^b   Green, Eric D ^a,j  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^d GEORGE WASHINGTON UNIVERSITY   (United States)

^e MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^f CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^g UNIVERSITY OF IOWA   (United States)

^h CENTRE HOSPITALIER SAINTE ANNE   (France)

ⁱ DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j NONE

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Author keywords

[No Author keywords available]

Indexed keywords

GLYCINE TRANSFER RNA LIGASE;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 7P; CHROMOSOME MAP; DNA SEQUENCE; GENE IDENTIFICATION; GENE LOCATION; GENE MAPPING; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; PATHOPHYSIOLOGY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SPINAL MUSCULAR ATROPHY;

EID: 0038067742     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/375039     Document Type: Article

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