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Annals of Neurology

Volumn 49, Issue 6, 2001, Pages 797-800

A SURF1 gene mutation presenting as isolated leukodystrophy

(5) Rahman, Shamina a,c Brown, Ruth M a Chong, Wui Khean a Wilson, Callum J b Brown, Garry K a

a GREAT ORMOND STREET HOSPITAL (United Kingdom)

b UNIVERSITY OF OXFORD (United Kingdom)

c UNIVERSITY COLLEGE LONDON (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE;

ARTICLE; BRAIN SCINTISCANNING; CASE REPORT; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HUMAN; LEUKODYSTROPHY; PATHOGENESIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

ACIDOSIS, LACTIC; BRAIN; CHILD, PRESCHOOL; CODON, TERMINATOR; CONSANGUINITY; CYTOCHROME-C OXIDASE DEFICIENCY; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX IV; EXONS; FAILURE TO THRIVE; FEMALE; FRAMESHIFT MUTATION; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; PHENOTYPE; PROTEINS; SEQUENCE DELETION;

EID: 0034987672 PISSN: 03645134 EISSN: None Source Type: Journal
DOI: 10.1002/ana.1060 Document Type: Article

Times cited : (71)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.