A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing

Masataka Saito, A. Ishiko

Research output: Contribution to journalArticle

8 Citations (Scopus)
Original languageEnglish
Pages (from-to)1204-1206
Number of pages3
JournalBritish Journal of Dermatology
Volume159
Issue number5
DOIs
Publication statusPublished - 2008 Nov

Fingerprint

DNA Mutational Analysis
Congenital Ichthyosiform Erythroderma
3-Hydroxysteroid Dehydrogenases
Multiple Abnormalities
Pigmented Nevus
X Chromosome Inactivation
Frameshift Mutation
Alternative Splicing
Reverse Transcriptase Polymerase Chain Reaction
Leg
Genes
Silent Mutation
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects

Keywords

  • Aberrant splicing
  • Congenital hemidysplasia with ichthyosiform naevus and limb defects
  • NSDHL
  • X-chromosome inactivation

ASJC Scopus subject areas

  • Dermatology

Cite this

A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing. / Saito, Masataka; Ishiko, A.

In: British Journal of Dermatology, Vol. 159, No. 5, 11.2008, p. 1204-1206.

Research output: Contribution to journalArticle

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