A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia [4]

American Journal of Medical Genetics, Part A

Volumn 143, Issue 4, 2007, Pages 390-394

  Tarpey, Patrick ^a   Pemberton, Trevor J ^b   Stockton, David W ^d,g   Das, Parimal ^d   Ninis, Vasiliki ^d   Edkins, Sarah ^a   Futreal, P Andrew ^a   Wooster, Richard ^a   Kamath, Sushanth ^e   Nayak, Rabindra ^f   Stratton, Michael R ^a   Patel, Pragna I ^b,c  

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^c UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e KASTURBA MEDICAL COLLEGE   (India)

^f DR B R AMBEDKAR MEDICAL COLLEGE   (India)

^g WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ECTODYSPLASIN A; GENE PRODUCT; GLUTAMIC ACID; GLUTAMINE; MUTANT PROTEIN;

AMINO ACID SUBSTITUTION; CAUSAL ATTRIBUTION; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; COMPLEX FORMATION; CONTROLLED STUDY; EDA GENE; FEMALE; FUNCTIONAL PROTEOMICS; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPODONTIA; INCISOR; LETTER; LINKAGE ANALYSIS; MALE; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; PROTEIN QUATERNARY STRUCTURE; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; STRUCTURE ACTIVITY RELATION; X CHROMOSOME LINKAGE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; ANODONTIA; BASE SEQUENCE; ECTODYSPLASINS; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; GLUTAMIC ACID; GLYCINE; HUMANS; INCISOR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE ALIGNMENT;

EID: 33846785379     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31567     Document Type: Letter

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