New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome

Clinical and Experimental Dermatology

Volumn 36, Issue 4, 2011, Pages 412-415

  Fong, K ^a   Akdeniz, S ^b   Isi, H ^b   Taskesen, M ^b   Mcgrath, J A ^a   Lai Cheong, J E ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b Dicle Medical University   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

EMOLLIENT AGENT; GENOMIC DNA; GLUTAMINE; STEROID;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; FEMALE; GENE; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; ICHTHYOSIS; MALE; NETHERTON DISEASE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SPINK 5 GENE;

CONSANGUINITY; FEMALE; GENETIC ASSOCIATION STUDIES; HOMOZYGOTE; HUMANS; MALE; MUTATION; NETHERTON SYNDROME; PEDIGREE; PROTEINASE INHIBITORY PROTEINS, SECRETORY; TURKEY;

EID: 79955945037     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2010.03976.x     Document Type: Article

References (14)

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