Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation

Genomics

Volumn 92, Issue 5, 2008, Pages 273-278

  Petukhova, Lynn ^a   Sousa Jr , Edilson C ^b   Martinez Mir, Amalia ^a   Vitebsky, Anna ^a   dos Santos, Lina G ^b   Shapiro, Lawrence ^a   Haynes, Chad ^c   Gordon, Derek ^d   Shimomura, Yutaka ^a   Christiano, Angela M ^a  

^a Columbia University College of Physicians and Surgeons ^*  (United States)

^b FEDERAL UNIVERSITY OF PIAUÍ   (Brazil)

^c ROCKEFELLER UNIVERSITY   (United States)

^d RUTGERS UNIVERSITY   (United States)

Author keywords

Autosomal recessive hypotrichosis; Autosomal recessive woolly hair; G protein coupled receptor; P2RY5; Variable expressivity

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 13Q; CHROMOSOME 14Q; CLINICAL ARTICLE; CONSANGUINITY; DNA SEQUENCE; FEMALE; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC SCREENING; GENOME; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HYPOTRICHOSIS; MALE; P2RY5 GENE; PAKISTAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SEQUENCE; ANIMALS; BRAZIL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 13; FEMALE; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPOTRICHOSIS; LINKAGE (GENETICS); LOD SCORE; MALE; MICE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, PURINERGIC P2; SEQUENCE ANALYSIS, DNA;

EID: 53649084623     PISSN: 08887543     EISSN: 10898646     Source Type: Journal    
DOI: 10.1016/j.ygeno.2008.06.009     Document Type: Article

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