A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia

Ajay K. Chaudhary, Katta M. Girisha, Murali D. Bashyam

Research output: Contribution to journalArticle

3 Citations (Scopus)
Original languageEnglish
Pages (from-to)1639-1641
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Volume170
Issue number6
DOIs
Publication statusPublished - 01-06-2016

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

@article{54edfee95ce349e9955e12e412886cf7,
title = "A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia",
author = "Chaudhary, {Ajay K.} and Girisha, {Katta M.} and Bashyam, {Murali D.}",
year = "2016",
month = "6",
day = "1",
doi = "10.1002/ajmg.a.37607",
language = "English",
volume = "170",
pages = "1639--1641",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "6",

}

TY - JOUR

T1 - A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia

AU - Chaudhary, Ajay K.

AU - Girisha, Katta M.

AU - Bashyam, Murali D.

PY - 2016/6/1

Y1 - 2016/6/1

UR - http://www.scopus.com/inward/record.url?scp=84961279088&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84961279088&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.37607

DO - 10.1002/ajmg.a.37607

M3 - Article

VL - 170

SP - 1639

EP - 1641

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 6

ER -