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American Journal of Medical Genetics

Volumn 100, Issue 3, 2001, Pages 219-222

mtDNA analysis of Leber hereditary optic neuropathy associated with spondyloepiphyseal dysplasia

(5) Howell, Neil a,e Kubacka, Iwona a McDonough, Barbara b Hodess, Arthur B c Harter, Donald H d

a University of Texas Medical Branch School of Medicine (United States)

b HOWARD HUGHES MEDICAL INSTITUTE (United States)

c Brandywine Valley Cardiovasc Assoc (United States)

d GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES (United States)

e UNIVERSITY OF TEXAS MEDICAL BRANCH (United States)

Author keywords

Leber hereditary optic neuropathy; Mitochondrial DNA; Mitochondrial genetics; Skeletal abnormalities; Spondyloepiphyseal dysplasia

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ARTICLE; CASE REPORT; DNA SEQUENCE; GENE MUTATION; GENETIC POLYMORPHISM; HEREDITARY OPTIC ATROPHY; HUMAN; MALE; PRIORITY JOURNAL; SKELETON MALFORMATION; SPONDYLOEPIPHYSEAL DYSPLASIA;

DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; HUMANS; MALE; MIDDLE AGED; NERVOUS SYSTEM DISEASES; OPTIC ATROPHIES, HEREDITARY; OSTEOCHONDRODYSPLASIAS; PEDIGREE; POINT MUTATION; POLYMORPHISM, GENETIC; VISUAL ACUITY; VISUAL FIELDS;

EID: 0035341511 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.1264 Document Type: Article

Times cited : (3)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.