Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum

The XPD(ERCC2) gene encodes a DNA helicase involved in DNA repair and transcription. Patients with mutations in XPD may have different autosomal recessive phenotypes including trichothiodystrophy (TTD) or xeroderma pigmentosum (XP). TTD patients have sulfur-deficient, brittle hair, short stature and...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Tamura, Deborah, Khan, Sikandar G, Merideth, Melissa, DiGiovanna, John J, Tucker, Margaret A, Goldstein, Alisa M, Oh, Kyu-Seon, Ueda, Takahiro, Boyle, Jennifer, Sarihan, Mansi, Kraemer, Kenneth H
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2012
Fag:
Short Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3499748/
https://ncbi.nlm.nih.gov/pubmed/22617342
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.90
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker