Zellweger syndrome caused by PEX13 deficiency: Report of two novel mutations

American Journal of Medical Genetics, Part A

Volumn 149, Issue 6, 2009, Pages 1219-1223

  Al Dirbashi, O Y ^a,h   Shaheen, R ^a   Al Sayed, M ^a   Al Dosari, M ^a   Makhseed, N ^b   Abu Safieh, L ^a   Santa, T ^c   Meyer, B F ^a   Shimozawa, N ^d   Alkuraya, F S ^a,e,f,g  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b Aljahra Hospital   (Kuwait)

^c UNIVERSITY OF TOKYO   (Japan)

^d GIFU UNIVERSITY   (Japan)

^e KING SAUD UNIVERSITY   (Saudi Arabia)

^f ALFAISAL UNIVERSITY   (Saudi Arabia)

^g BOSTON CHILDREN S HOSPITAL   (United States)

^h CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

Author keywords

Deletion; Peroxisomal biogenesis disorder; PEX13; Zellweger syndrome

Indexed keywords

MEMBRANE PROTEIN; PROTEIN PEX13; UNCLASSIFIED DRUG;

ARTICLE; BLOOD SAMPLING; CASE REPORT; CLINICAL FEATURE; DISORDERS OF PEROXISOMAL FUNCTIONS; GENE DELETION; GENE MUTATION; GENOMICS; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; INFANT; LABORATORY TEST; PRIORITY JOURNAL; SKIN BIOPSY; ZELLWEGER SYNDROME;

BASE SEQUENCE; FIBROBLASTS; FRAMESHIFT MUTATION; GENE REARRANGEMENT; GENETIC COMPLEMENTATION TEST; HUMANS; INFANT; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; SEQUENCE DELETION; ZELLWEGER SYNDROME;

EID: 66349109964     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32874     Document Type: Article

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