A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia

Journal of Human Genetics

Volumn 53, Issue 10, 2008, Pages 894-898

  Rasool, Mahmood ^a   Schuster, Jens ^b   Aslam, Muhammad ^a   Tariq, Muhammad ^a   Ahmad, Ilyas ^a   Ali, Amjad ^a   Entesarian, Miriam ^b   Dahl, Niklas ^b   Baig, Shahid Mahmood ^a  

^a NATIONAL INSTITUTE FOR BIOTECHNOLOGY AND GENETIC ENGINEERING NIBGE   (Pakistan)

^b UPPSALA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

EDA gene; EDA model; Missense mutation; X linked recessive hypodontia

Indexed keywords

ECTODYSPLASIN A; METHIONINE; THREONINE; TUMOR NECROSIS FACTOR;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DENTITION; ECTODYSPLASIN A GENE; GENE; GENETIC LINKAGE; HUMAN; HYPODONTIA; MISSENSE MUTATION; PEDIGREE; PHENOTYPE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANODONTIA; CHROMOSOMES, HUMAN, X; ECTODYSPLASINS; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PROTEIN FOLDING; RECOMBINATION, GENETIC; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 52649149527     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-008-0323-x     Document Type: Article

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