Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy

Dermatology

Volumn 220, Issue 3, 2010, Pages 208-212

  Shimomura, Y ^a   Wajid, M ^a   Kurban, M ^a   Christiano, A M ^a,b  

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

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

Author keywords

Ectrodactyly; Hypotrichosis; Macular dystrophy; P cadherin

Indexed keywords

DNA; P CADHERIN;

ALTERNATIVE RNA SPLICING; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DNA EXTRACTION; EXON; FAMILY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC SCREENING; HAPLOTYPE; HUMAN; HYPOTRICHOSIS; PAKISTAN; PRIORITY JOURNAL; RETINA MACULA DEGENERATION;

ADULT; BASE SEQUENCE; CADHERINS; CHILD; CONSANGUINITY; HAPLOTYPES; HUMANS; HYPOTRICHOSIS; MACULAR DEGENERATION; MALE; PEDIGREE; POINT MUTATION; RNA SPLICE SITES;

EID: 77951812410     PISSN: 10188665     EISSN: None     Source Type: Journal    
DOI: 10.1159/000275673     Document Type: Article

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