First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes

Annals of the Rheumatic Diseases

Volumn 72, Issue 6, 2013, Pages 1109-1110

  Jiménez Treviño, Santiago ^a   González Roca, Eva ^b   Ruiz Ortiz, Estibaliz ^b   Yagüe, Jordi ^b   Ramos, Eduardo ^a   Aróstegui, Juan Ignacio ^b  

^a HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^b INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CRYOPYRIN; GENOMIC DNA; METHIONINE; THREONINE;

ALLELE; AMINO ACID SUBSTITUTION; CINCA SYNDROME; DNA SEQUENCE; EMBRYO DEVELOPMENT; FAMILY ASSESSMENT; GENOTYPE; GERM LINE; HUMAN; LETTER; MOSAICISM; MUCKLE WELLS SYNDROME; MUTATION RATE; MUTATIONAL ANALYSIS; NLRP3 GENE; PRIORITY JOURNAL; SOMATIC MUTATION; TISSUE DISTRIBUTION; VERTICAL TRANSMISSION;

FEVER SYNDROMES; INFLAMMATION; QUALITATIVE RESEARCH;

CARRIER PROTEINS; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; MOSAICISM; MUTATION;

EID: 84877629096     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2012-202913     Document Type: Letter

References (6)

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