Identification of mutations in the transglutaminase 1 gene in lamellar ichthyosis

Experimental Dermatology

Volumn 8, Issue 2, 1999, Pages 128-133

  Tok, J ^a   Garzon, M C ^a   Cserhalmi Friedman, P ^a   Lam, H M ^a   Spitz, J L ^a   Christiano, Angela M ^a  

^a College of Physicians and Surgeons ^*  (United States)

Author keywords

Genodermatosis; Human genetics; Lamellar ichthyosis; Mutation; Transglutaminase 1 gene

Indexed keywords

LEUCINE; PROLINE; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE; PYROXYLIN;

ALOPECIA; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; ECTROPION; EXON; FAMILIAL INCIDENCE; FEMALE; GENE MUTATION; GENODERMATOSIS; HOMOZYGOSITY; HUMAN; INFANT; KERATOSIS PALMOPLANTARIS; LAMELLAR ICHTHYOSIS; MONOZYGOTIC TWINS; MOTHER; NUCLEOTIDE SEQUENCE; PEDIGREE; PRENATAL DIAGNOSIS; PROGENY; SCAR FORMATION;

EID: 0032937955     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0625.1999.tb00360.x     Document Type: Article

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