Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

Human Molecular Genetics

Volumn 10, Issue 13, 2001, Pages 1369-1378

  Toomes, Carmel ^a   Marchbank, Nicola J ^a   Mackey, David A ^b   Craig, Jamie E ^b   Newbury Ecob, Ruth A ^c   Bennett, Chris P ^d   Vize, Colin J ^a   Desai, Shrivatsa P ^e   Black, Graeme C M ^f   Patel, Nishal ^g,h   Teimory, Masoud ^g,h   Markham, Alexander F ^a   Inglehearn, Chris F ^a   Churchill, Amanda J ^a,i  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b CENTRE FOR EYE RESEARCH AUSTRALIA   (Australia)

^c ST MICHAEL'S HOSPITAL   (United Kingdom)

^d ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^e DONCASTER ROYAL INFIRMARY   (United Kingdom)

^f MANCHESTER ROYAL EYE HOSPITAL   (United Kingdom)

^g West Sussex Eye Unit   (United Kingdom)

^h St Richards's Hospital   (United Kingdom)

ⁱ BRISTOL EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

OPA1 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CALCULATION; CHROMOSOME 3Q; CHROMOSOME MAP; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILY; FOUNDER EFFECT; FREQUENCY ANALYSIS; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HEREDITARY OPTIC ATROPHY; HUMAN; MEDICAL LITERATURE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PENETRANCE; PRIORITY JOURNAL; SPECTRUM; SYMPTOM;

DOA;

EID: 0035875096     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.13.1369     Document Type: Article

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