Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis

International Journal of Dermatology

Volumn 51, Issue 4, 2012, Pages 427-430

  Fachal, Laura ^a   Rodríguez Pazos, Laura ^b   Ginarte, Manuel ^b   Beiras, Andrés ^b   Suárez Peñaranda, José M ^b   Toribio, Jaime ^b   Carracedo, Ángel ^a   Vega, Ana ^a  

^a UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^b HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ETRETIN; NUCLEOTIDE; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE 1; UNCLASSIFIED DRUG;

ACANTHOSIS; ALOPECIA; ARTICLE; CASE REPORT; CHILD; CODON; CONTROLLED STUDY; ECTROPION; FEMALE; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; HYPERKERATOSIS; INTRON; LAMELLAR ICHTHYOSIS; PHENOTYPE; PREMATURITY; PROTEIN DOMAIN; PROTEIN PROCESSING; SCHOOL CHILD; STRATUM CORNEUM;

CARRIER STATE; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; ICHTHYOSIS, LAMELLAR; MUTATION; TRANSGLUTAMINASES;

EID: 84858758740     PISSN: 00119059     EISSN: 13654632     Source Type: Journal    
DOI: 10.1111/j.1365-4632.2011.05171.x     Document Type: Article

References (6)

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