The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.

Human mutation

Volumn 17, Issue 4, 2001, Pages 349-

  Paakkonen K ^a   Cambiaghi, S ^a   Novelli, G ^a   Ouzts, L V ^a   Penttinen, M ^a   Kere, J ^a   Srivastava, A K ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ECTODYSPLASIN A; EDA PROTEIN, HUMAN; MEMBRANE PROTEIN;

ALTERNATIVE RNA SPLICING; ARTICLE; CHEMISTRY; ECTODERMAL DYSPLASIA; EXON; FEMALE; GENETIC LINKAGE; GENETICS; HUMAN; INTRON; MALE; METABOLISM; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; PROTEIN MOTIF; PROTEIN TERTIARY STRUCTURE; RNA SPLICING; X CHROMOSOME;

ALTERNATIVE SPLICING; AMINO ACID MOTIFS; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; ECTODYSPLASINS; EXONS; FEMALE; HUMANS; INTRONS; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MUTATION; MUTATION, MISSENSE; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; RNA SPLICE SITES; X CHROMOSOME;

MLCS; MLOWN;

EID: 0035320883     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.33     Document Type: Article

References (0)