A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families

Archives of Dermatological Research

Volumn 301, Issue 5, 2009, Pages 391-393

  Nahum, Sagi ^a,b   Pasternack, Sandra M ^c   Pforr, Jana ^c   Indelman, Margarita ^b   Wollnik, Bernd ^e   Bergman, Reuven ^a,b   Nöthen, Markus M ^c,d   König, Arne ^f   Khamaysi, Ziyad ^b   Betz, Regina C ^c,e   Sprecher, Eli ^a,b  

^a RAMBAM MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c UNIVERSITY HOSPITAL BONN   (Germany)

^d UNIVERSITY OF BONN   (Germany)

^e UNIVERSITY OF COLOGNE   (Germany)

^f PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

Hair; LIPH; Mutation

Indexed keywords

PHOSPHOLIPASE;

ARTICLE; AUTOSOMAL RECESSIVE HYPOTRICHOSIS SIMPLEX; CELL DIFFERENTIATION; CHROMOSOME 3Q; DISEASE ASSOCIATION; EXON; GENE; GENE DUPLICATION; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; HAIR GROWTH; HOMOZYGOSITY; HUMAN; HYPOTRICHOSIS; LIPH GENE; MICROSATELLITE MARKER; PRIORITY JOURNAL; PROTEIN FUNCTION; SIGNAL TRANSDUCTION;

ARABS; CHILD; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 3; DNA MUTATIONAL ANALYSIS; EXONS; GENE DUPLICATION; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HAIR; HAIR FOLLICLE; HUMANS; HYPOTRICHOSIS; ISRAEL; LIPASE; MICROSATELLITE REPEATS; PEDIGREE; POLYMORPHISM, GENETIC; TURKEY;

EID: 67651167048     PISSN: 03403696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00403-008-0903-9     Document Type: Article

References (9)

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