A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome

Experimental Dermatology

Volumn 25, Issue 7, 2016, Pages 568-570

  Numata, Sanae ^a   Teye, Kwesi ^a   Krol, Rafal P ^a   Okamatsu, Yuki ^a   Hashikawa, Keiko ^a   Matsuda, Mitsuhiro ^a   Fortugno, Paola ^b   Di Zenzo, Giovanni ^b   Castiglia, Daniele ^b   Zambruno, Giovanna ^b   Hamada, Takahiro ^a   Hashimoto, Takashi ^a  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

Author keywords

Netherton syndrome; p.Gln158Gln; pathogenicity; SPINK5

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; IMMUNOGLOBULIN E; PROTEIN; SPINK5 PROTEIN; UNCLASSIFIED DRUG;

CASE REPORT; CODON; CONTROLLED STUDY; ERYTHRODERMA; GENE MUTATION; HUMAN; IMMUNOBLOTTING; IMMUNOFLUORESCENCE TEST; IMMUNOGLOBULIN BLOOD LEVEL; INFANT; JAPANESE (PEOPLE); LAMELLAR ICHTHYOSIS; LETTER; MALE; NETHERTON DISEASE; NONHUMAN; PHENOTYPE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN DEFECT; SPLICING DEFECT; TRANSIENT TRANSFECTION; TRICHORRHEXIS;

EID: 84977079078     PISSN: 09066705     EISSN: 16000625     Source Type: Journal    
DOI: 10.1111/exd.13011     Document Type: Letter

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