A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient.
Kurban
M
M
Ghosn
S
S
Abbas
O
O
Shimomura
Y
Y
Christiano
A
A
D000293:Adolescent; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001216:Asparagine; D001224:Aspartic Acid; D005808:Genes, Recessive; D006201:Hair Diseases / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D018048:Receptors, Purinergic P2 / Q000235:genetics*; D013593:Syria; D049368:Receptors, Lysophosphatidic Acid
D001216:Asparagine; D001224:Aspartic Acid; D018048:Receptors, Purinergic P2; C082320:LPAR4 protein, human; D049368:Receptors, Lysophosphatidic Acid