A splice site mutation confirms the role of LPIN2 in Majeed syndrome

Arthritis and Rheumatism

Volumn 56, Issue 3, 2007, Pages 960-964

  Al Mosawi, Zakiya S ^a   Al Saad, Khulood K ^a   Ijadi Maghsoodi, Roya ^b   El Shanti, Hatem I ^b   Ferguson, Polly J ^b  

^a SALMANIYA MEDICAL COMPLEX   (Bahrain)

^b UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANEMIA; ARTICLE; AUTOIMMUNE DISEASE; BASE PAIRING; BONE MARROW BIOPSY; CASE REPORT; CLINICAL FEATURE; CONGENITAL DYSERYTHROPOIETIC ANEMIA; EXON; FEMALE; FEVER; GENE; GENE MUTATION; GENE SEQUENCE; HEPATOSPLENOMEGALY; HETEROZYGOTE; HUMAN; INFLAMMATORY DISEASE; LPIN2 GENE; MAJEED SYNDROME; NUCLEOTIDE SEQUENCE; OSTEOMYELITIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN DISEASE; SYMPTOM;

AMINO ACID SEQUENCE; ANEMIA, DYSERYTHROPOIETIC, CONGENITAL; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; OSTEOMYELITIS; PEDIGREE; SKIN DISEASES; SYNDROME;

EID: 33947137738     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/art.22431     Document Type: Article

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