A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient

Journal of Dermatological Science

Volumn 57, Issue 2, 2010, Pages 132-134

  Kurban, M ^a   Ghosn, S ^b   Abbas, O ^b   Shimomura, Y ^a   Christiano, A ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

Author keywords

Hypotrichosis; Lipase H; P2RY5 gene; Woolly hair

Indexed keywords

ASPARAGINE; ASPARTIC ACID; GENOMIC DNA; LIPASE H; PURINERGIC P2Y RECEPTOR; PURINERGIC P2Y5 RECEPTOR; TRIACYLGLYCEROL LIPASE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD SAMPLING; DNA DETERMINATION; DNA ISOLATION; EXON; GENE MUTATION; GENETIC ASSOCIATION; HAIR DISEASE; HAIR LOSS; HISTOPATHOLOGY; HUMAN; HYPOTRICHOSIS; LETTER; LINKAGE ANALYSIS; MISSENSE MUTATION; NONHUMAN; PHENOTYPE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; WOOLLY HAIR;

ADOLESCENT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ASPARAGINE; ASPARTIC ACID; GENES, RECESSIVE; HAIR DISEASES; HOMOZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; RECEPTORS, PURINERGIC P2; SYRIA;

EID: 74749085366     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2009.10.015     Document Type: Letter

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