Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement

American Journal of Human Genetics

Volumn 96, Issue 6, 2015, Pages 948-954

  El Asrag, Mohammed E ^a,b   Sergouniotis, Panagiotis I ^c,d   McKibbin, Martin ^e   Plagnol, Vincent ^f   Sheridan, Eamonn ^e   Waseem, Naushin ^c   Abdelhamed, Zakia ^a   McKeefry, Declan ^g   Van Schil, Kristof ^h   Poulter, James A ^a   Black, Graeme ^k   Hall, Georgina ^k   Ingram, Stuart ^k   Gillespie, Rachel ^k   Ramsden, Simon ^k   Manson, Forbes ^k   Hardcastle, Alison ^k   Michaelides, Michel ^k   Cheetham, Michael ^k   Arno, Gavin ^k   Thomas, Niclas ^k   Bhattacharya, Shomi ^k   Moore, Tony ^k   Nemeth, Andrea ^k   Downes, Susan ^k   Lise, Stefano ^k   Lord, Emma ^k   Johnson, Colin A ^a   Carr, Ian M ^a   Leroy, Bart P ^h,i   De Baere, Elfride ^h   Inglehearn, Chris F ^a   Webster, Andrew R ^c,j   Toomes, Carmel ^a   Ali, Manir ^a   more..

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b BENHA UNIVERSITY   (Egypt)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

^e ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g UNIVERSITY OF BRADFORD   (United Kingdom)

^h GHENT UNIVERSITY HOSPITAL   (Belgium)

ⁱ CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^j MOORFIELDS EYE HOSPITAL   (United Kingdom)

^k NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA DAMAGE REGULATED AUTOPHAGY MODULATOR PROTEIN 2; GENOMIC DNA; MEMBRANE PROTEIN; UNCLASSIFIED DRUG; DRAM2 PROTEIN, HUMAN;

ADULT; ARTICLE; AUTOPHAGY; CONTROLLED STUDY; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PAKISTANI; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RETINA DYSTROPHY; VISUAL IMPAIRMENT; CASE REPORT; DNA SEQUENCE; ETHNOLOGY; GENETICS; GREAT BRITAIN; MACULAR DEGENERATION; METABOLISM; MOLECULAR GENETICS; MUTATION; PAKISTAN; PATHOLOGY; PEDIGREE;

ADULT; BASE SEQUENCE; EXOME; GREAT BRITAIN; HOMOZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; MACULAR DEGENERATION; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PAKISTAN; PEDIGREE; RETINAL DYSTROPHIES; SEQUENCE ANALYSIS, DNA;

EID: 84929483829     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.04.006     Document Type: Article

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