Laminin 5 mutations in junctional epidermolysis bullosa: Molecular basis of Herlitz vs non-Herlitz phenotypes

Human Genetics

Volumn 110, Issue 1, 2002, Pages 41-51

  Nakano, Aoi ^a   Chao, Sheau Chiou ^a   Pulkkinen, Leena ^a   Murrell, Dedee ^b   Bruckner Tuderman, Leena ^c   Pfendner, Ellen ^a   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b UNIVERSITY OF NEW SOUTH WALES   (Australia)

^c UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

KALININ; KALININ ALPHA 3 CHAIN; KALININ BETA 3 CHAIN; KALININ GAMMA 2 CHAIN; NUCLEOTIDE; POLYPEPTIDE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CORRELATION ANALYSIS; DISEASE CLASSIFICATION; EPIDERMOLYSIS BULLOSA; EXON; FATALITY; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC DATABASE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HETERODUPLEX ANALYSIS; HUMAN; HUMAN CELL; INFANT; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN SYNTHESIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPLICEOSOME; STOP CODON; TRANS SPLICING;

ADOLESCENT; ADULT; ALTERNATIVE SPLICING; CELL ADHESION MOLECULES; CHILD; CODON, TERMINATOR; DNA PRIMERS; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; EXONS; FEMALE; GENE DELETION; GENOMIC IMPRINTING; HUMANS; INFANT; MALE; PEDIGREE; PHENOTYPE; PROTEIN SUBUNITS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SKIN; VARIATION (GENETICS);

EID: 0036461064     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-001-0630-1     Document Type: Article

References (21)

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