Mutant ADA2 in vasculopathies

New England Journal of Medicine

Volumn 371, Issue 5, 2014, Pages 479-480

  Bras, Jose ^a   Guerreiro, Rita ^a   Santo, Gustavo C ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ADA2 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; ADENOSINE DEAMINASE; SIGNAL PEPTIDE;

ADA2 PROTEIN DEFICIENCY; BRAIN HEMORRHAGE; BRAIN ISCHEMIA; CECR1 GENE; CLINICAL FEATURE; DNA POLYMORPHISM; ETHNIC GROUP; EXOME; EXON; FAMILY STUDY; FEVER; GENE; GENE MUTATION; GENE SEGREGATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; LEG ULCER; LETTER; LIVEDO RACEMOSA; PHENOTYPE; PORTUGUESE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SIBLING; SKIN DISEASE; SNEDDON SYNDROME; ANIMAL; CEREBROVASCULAR ACCIDENT; FEMALE; GENETICS; MALE; MUTATION; NOTE; POLYARTERITIS NODOSA; VASCULAR DISEASE;

ADENOSINE DEAMINASE; ANIMALS; FEMALE; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MUTATION; POLYARTERITIS NODOSA; STROKE; VASCULAR DISEASES;

EID: 84904880656     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMc1405506     Document Type: Letter

References (2)

1. Santo GC, Mascarenhas R, Geraldo A, et al. Familial Sneddon's syndrome: clinical, dermatologic and radiographic findings. Cerebrovasc Dis 2002;13:Suppl 3:50.
2. Mascarenhas R, Santo GC, Gonçalo M, et al. Familial Sneddon's syndrome. Eur J Dermatol 2003;13:283-7. (Pubitemid 36683441)