Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes.
RamaDevi
A R
AR
Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Nacharam, Hyderabad 500 076, India.
Reddy
E C
EC
Ranjan
S
S
Bashyam
M D
MD
D000595:Amino Acid Sequence; D001483:Base Sequence; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000235:genetics*; D053360:Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / Q000235:genetics*; D053331:Ectodysplasins / Q000235:genetics*; D053339:Edar Receptor / Q000235:genetics*; D005260:Female; D006801:Humans; D007194:India; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D016415:Sequence Alignment
C506018:EDA protein, human; C506008:EDAR protein, human; D053331:Ectodysplasins; D053339:Edar Receptor