Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother

J CASADEMONT; A BARRIENTOS; A URBANO-MARQUEZ; V NUNES; F CARDELLACH; A RÖTIG; J.-M GRAU; J MONTOYA; B BELTRAN; F CERVANTES; C ROZMAN; X ESTIVILL

doi:10.1093/hmg/3.11.1945

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Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother

Journal article

Peer reviewed

Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother

J CASADEMONT, A BARRIENTOS, A URBANO-MARQUEZ, V NUNES, F CARDELLACH, A RÖTIG, J.-M GRAU, J MONTOYA, B BELTRAN, F CERVANTES, …

Human molecular genetics, Vol.3(11), pp.1945-1949

1994

DOI: https://doi.org/10.1093/hmg/3.11.1945

PMID: 7874110

Abstract

Neurology

Biological and medical sciences

Medical sciences

Diseases of striated muscles. Neuromuscular diseases

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61 Times Cited - Web of Science

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.197 Molecular & Cell Biology - Mitochondria; 1.197.564 Mitochondrial DNA
Web Of Science research areas: Biochemistry & Molecular Biology; Genetics & Heredity
ESI research areas: Molecular Biology & Genetics

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Details

Title: Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother
Creators: J CASADEMONT - Univ. Barcelona, hosp. clin. provincial, dep. medicina, 08036 Barcelona, Spain
A BARRIENTOS - Univ. Barcelona, hosp. clin. provincial, dep. medicina, 08036 Barcelona, Spain
A URBANO-MARQUEZ - Univ. Barcelona, hosp. clin. provincial, dep. medicina, 08036 Barcelona, Spain
V NUNES - Univ. Barcelona, hosp. clin. provincial, dep. medicina, 08036 Barcelona, Spain
F CARDELLACH - Univ. Barcelona, hosp. clin. provincial, dep. medicina, 08036 Barcelona, Spain
A RÖTIG - Univ. Barcelona, hosp. clin. provincial, dep. medicina, 08036 Barcelona, Spain
J.-M GRAU - Univ. Barcelona, hosp. clin. provincial, dep. medicina, 08036 Barcelona, Spain
J MONTOYA - Univ. Barcelona, hosp. clin. provincial, dep. medicina, 08036 Barcelona, Spain
B BELTRAN - Univ. Barcelona, hosp. clin. provincial, dep. medicina, 08036 Barcelona, Spain
F CERVANTES - Univ. Barcelona, hosp. clin. provincial, dep. medicina, 08036 Barcelona, Spain
C ROZMAN - Univ. Barcelona, hosp. clin. provincial, dep. medicina, 08036 Barcelona, Spain
X ESTIVILL - Univ. Barcelona, hosp. clin. provincial, dep. medicina, 08036 Barcelona, Spain
Publication Details: Human molecular genetics, Vol.3(11), pp.1945-1949
Publisher: Oxford University Press; Oxford
Academic Unit: Miller School of Medicine; UMMG Department of Neurology
Language: English
Resource Type: Journal article
PMID: 7874110
Record Identifier: 991031561664502976