A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia

Journal of Human Genetics

Volumn 51, Issue 5, 2006, Pages 498-502

  Tao, Ran ^a,b   Jin, Buhe ^c   Guo, Shen Zheng ^a,b   Qing, Wei ^b   Feng, Guo Yin ^a,b   Brooks, David G ^c   Liu, Lijun ^d   Xu, Junfu ^d   Li, Taiwei ^d   Yan, Yujuan ^e   He, Lin ^a,b  

^a Shanghai Jiao Tong University Affiliated Sixth People s Hospital   (China)

^b SHANGHAI JIAO TONG UNIVERSITY   (China)

^c MERCK RESEARCH LABORATORIES   (United States)

^d Tongliao Hospital   (China)

^e Tongji University School of Medicine   (China)

Author keywords

EDA gene; Missense mutation; Oligodontia; X linked ectodermal dysplasia; Xq12 q13.1

Indexed keywords

ARGININE; ECTODYSPLASIN A; LYSINE;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME XQ; CONGENITAL DISORDER; CONTROLLED STUDY; ECTODYSPLASIN A GENE; FAMILY; GENE; GENE INACTIVATION; GENE LOCUS; GENE MAPPING; HETEROZYGOTE; HUMAN; HYPODONTIA; MISSENSE MUTATION; MONGOLOID RACE; X CHROMOSOMAL INHERITANCE;

ANODONTIA; BASE SEQUENCE; CHROMOSOMES, HUMAN, X; ECTODYSPLASINS; FAMILY; FEMALE; HAPLOTYPES; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MONGOLIA; MUTATION, MISSENSE; PEDIGREE; TUMOR NECROSIS FACTORS;

EID: 33744990403     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0389-2     Document Type: Article

References (7)

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