A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome [1]

Rika Kosaki, Hirofumi Ohashi, Hiroshi Yoshihashi, Taichi Suzuki, Kenjiro Kosaki

Research output: Contribution to journalArticle

16 Citations (Scopus)
Original languageEnglish
Pages (from-to)314-315
Number of pages2
JournalClinical Genetics
Volume60
Issue number4
DOIs
Publication statusPublished - 2001

Fingerprint

Congenital Hand Deformities
Congenital Foot Deformities
Ectodermal Dysplasia
Tumor Suppressor Proteins
Trans-Activators
Cleft Lip
Phosphoproteins
DNA-Binding Proteins
Cleft Palate
Missense Mutation
Amino Acid Substitution
Tumor Suppressor Genes
Membrane Proteins
Newborn Infant
Polymerase Chain Reaction
Mutation
Genes
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome [1]. / Kosaki, Rika; Ohashi, Hirofumi; Yoshihashi, Hiroshi; Suzuki, Taichi; Kosaki, Kenjiro.

In: Clinical Genetics, Vol. 60, No. 4, 2001, p. 314-315.

Research output: Contribution to journalArticle

Kosaki, Rika ; Ohashi, Hirofumi ; Yoshihashi, Hiroshi ; Suzuki, Taichi ; Kosaki, Kenjiro. / A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome [1]. In: Clinical Genetics. 2001 ; Vol. 60, No. 4. pp. 314-315.
@article{dcac813a7eff49cea85eab17fb0363f5,
title = "A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome [1]",
author = "Rika Kosaki and Hirofumi Ohashi and Hiroshi Yoshihashi and Taichi Suzuki and Kenjiro Kosaki",
year = "2001",
doi = "10.1034/j.1399-0004.2001.600411.x",
language = "English",
volume = "60",
pages = "314--315",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "4",

}

TY - JOUR

T1 - A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome [1]

AU - Kosaki, Rika

AU - Ohashi, Hirofumi

AU - Yoshihashi, Hiroshi

AU - Suzuki, Taichi

AU - Kosaki, Kenjiro

PY - 2001

Y1 - 2001

UR - http://www.scopus.com/inward/record.url?scp=0034749187&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0034749187&partnerID=8YFLogxK

U2 - 10.1034/j.1399-0004.2001.600411.x

DO - 10.1034/j.1399-0004.2001.600411.x

M3 - Article

VL - 60

SP - 314

EP - 315

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 4

ER -