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Volumn 42, Issue 12, 2015, Pages 1212-1214

Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375-376delAT

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; HABEKACIN; MEROPENEM; PETROLATUM; LEUKOCYTE ELASTASE INHIBITOR; SPINK5 PROTEIN, HUMAN;

EID: 84955193957     PISSN: 03852407     EISSN: 13468138     Source Type: Journal    
DOI: 10.1111/1346-8138.13090     Document Type: Letter
Times cited : (9)

References (5)
  • 1
    • 0036174691 scopus 로고    scopus 로고
    • Netherton syndrome: Disease expression and spectrum of SPINK5 mutations in 21 families
    • Bitoun E, Chavanas S, Irvine AD, et al,. Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol 2002; 118: 352-361.
    • (2002) J Invest Dermatol , vol.118 , pp. 352-361
    • Bitoun, E.1    Chavanas, S.2    Irvine, A.D.3
  • 2
    • 42149089353 scopus 로고    scopus 로고
    • Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients
    • Komatsu N, Saijoh K, Jayakumar A, et al,. Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients. J Invest Dermatol 2008; 128: 1148-1159.
    • (2008) J Invest Dermatol , vol.128 , pp. 1148-1159
    • Komatsu, N.1    Saijoh, K.2    Jayakumar, A.3
  • 3
    • 84896400639 scopus 로고    scopus 로고
    • Upregulation of interleukin-33 in the epidermis of two Japanese patients with Netherton syndrome
    • Konishi T, Tsuda T, Sakaguchi Y, et al,. Upregulation of interleukin-33 in the epidermis of two Japanese patients with Netherton syndrome. J Dermatol 2014; 41: 258-261.
    • (2014) J Dermatol , vol.41 , pp. 258-261
    • Konishi, T.1    Tsuda, T.2    Sakaguchi, Y.3
  • 4
    • 84897116879 scopus 로고    scopus 로고
    • Molecular analysis of a series of Israeli families with Comel-Netherton syndrome
    • Israeli S, Sarig O, Garty BZ, et al,. Molecular analysis of a series of Israeli families with Comel-Netherton syndrome. Dermatology 2014; 228: 183-188.
    • (2014) Dermatology , vol.228 , pp. 183-188
    • Israeli, S.1    Sarig, O.2    Garty, B.Z.3
  • 5
    • 84892728434 scopus 로고    scopus 로고
    • Sequencing depth and coverage: Key considerations in genomic analyses
    • Sims D, Sudbery I, Ilott NE, et al,. Sequencing depth and coverage: key considerations in genomic analyses. Nat Rev Genet 2014; 15: 121-132.
    • (2014) Nat Rev Genet , vol.15 , pp. 121-132
    • Sims, D.1    Sudbery, I.2    Ilott, N.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.