Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs

Clinical Genetics

Volumn 79, Issue 1, 2011, Pages 60-70

  Shaheen, R ^a   Al Dirbashi, O Y ^a,b,i   Al Hassnan, Z N ^a,h   Al Owain, M ^a   Makhsheed, N ^c   Basheeri, F ^d   Seidahmed, M Z ^e   Salih, M A M ^d   Faqih, E ^f   Zaidan, H ^a   Al Sayed, M ^a   Rahbeeni, Z ^a   Al Sheddi, T ^a   Hashem, M ^a   Kurdi, W ^a   Shimozawa, N ^g   Alkuraya, F S ^a,d,h  

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

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^c Jahra Hospital   (Kuwait)

^d KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^e SECURITY FORCES HOSPITAL   (Saudi Arabia)

^f KING FAHAD MEDICAL CITY   (Saudi Arabia)

^g GIFU UNIVERSITY   (Japan)

^h ALFAISAL UNIVERSITY   (Saudi Arabia)

ⁱ UNIVERSITY OF OTTAWA   (Canada)

Author keywords

Bifunctional; Founder mutation; Homozygosity mapping; Peroxisomal; Splice site mutation; Very long chain fatty acid

Indexed keywords

PHYTANIC ACID; VERY LONG CHAIN FATTY ACID;

ARAB; ARTICLE; CHEMICAL ANALYSIS; CHILD; CHONDRODYSPLASIA PUNCTATA; CLINICAL ARTICLE; CLINICAL TRIAL; CONTROLLED STUDY; FAMILIAL INCIDENCE; FAMILY ASSESSMENT; FEMALE; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE MICROSCOPY; INFANT; MALE; MIDDLE EAST; NEWBORN; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; ZELLWEGER SYNDROME;

ARABS; CHILD, PRESCHOOL; CYTOGENETIC ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC HETEROGENEITY; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE EAST; MUTATION; PEROXISOMAL DISORDERS; PEROXISOMES; SEQUENCE ANALYSIS;

EID: 78649982405     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01498.x     Document Type: Article

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