SCOPUS 정보 검색 플랫폼

Volumn 58, Issue 5, 1996, Pages 963-970

Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion

(10) Barrientos, A b Casademont, J b Saiz, A a Cardellach, F b Volpini, V b Solans, A b Tolosa, E b Urbano Marquez A b Estivill, X b Nunes, V a

a Institut de Recerca Oncologica (Spain)

b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; GLUTAMIC ACID; GLYCEROPHOSPHATE; MALIC ACID; MITOCHONDRIAL DNA; PYRUVIC ACID; SUCCINATE DEHYDROGENASE; SUCCINIC ACID;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHROMOSOME 4P; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME ACTIVITY; FEMALE; GENE DELETION; GENOME; HUMAN; HUMAN CELL; MITOCHONDRION; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPECTROPHOTOMETRY; WOLFRAM SYNDROME;

BASE SEQUENCE; CHILD; DNA, MITOCHONDRIAL; FEMALE; GENE DELETION; GENES, RECESSIVE; HUMANS; LINKAGE (GENETICS); MOLECULAR SEQUENCE DATA; PEDIGREE; WOLFRAM SYNDROME;

EID: 19144366747 PISSN: 00029297 EISSN: None Source Type: Journal
DOI: None Document Type: Article

Times cited : (78)

References (5)

1
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2
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- Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion
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4
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- Mitochondrial abnormalities in the DIDMOAD syndrome
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5
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- Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.