Asset Details
Do you wish to reserve the book?
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy
Do you wish to request the book?
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy
2005
Overview
We report the molecular findings in 14 patients (12 families) with X‐linked adrenoleukodystrophy (X‐ALD, MIM# 300100), a well‐defined peroxisomal disorder attributed to mutations in the ABCD1 gene on chromosome Xq28. With the aims of determining the spectrum of mutations and developing an efficient molecular genetic test for analysis of at‐risk women whose carrier status is unknown, and to offer molecular confirmation of their status to obligate heterozygotes, regardless of their clinical status, we carried out molecular screening by setting up a denaturing high‐performance liquid chromatography (DHPLC)‐based protocol. We identified eleven hemizygous base changes in ABCD1, including seven new mutations (c.145underscore;146ins4, c.264C>G, c.919C>T, c.994C>T, c.1027G>A, c.1508T>C, and c.1540A>C, resulting in the p.Pro193fs, p.Cys88Trp, p.Gln307X, p.Gln332X, p.Gly343Ser, p.Leu503Pro, and p.Ser514Arg changes, respectively). Adding new variants to the repertoire of ABCD1 mutations in X‐ALD, our data provide an efficient, cost‐effective, and reliable DHPLC detection protocol for mutation screening of X‐ALD families. © 2005 Wiley‐Liss, Inc.
Publisher
Wiley Subscription Services, Inc., A Wiley Company,John Wiley & Sons, Inc
Subject
/ Adrenoleukodystrophy - diagnosis
/ Adrenoleukodystrophy - genetics
/ Adrenoleukodystrophy - metabolism
/ ATP Binding Cassette Transporter, Sub-Family D, Member 1
/ ATP-Binding Cassette Transporters - genetics
/ ATP-Binding Cassette Transporters - metabolism
/ Chromatography, High Pressure Liquid - methods
/ DNA Mutational Analysis - methods
/ Female
/ Humans
/ Italy
/ Male
/ Mutation
/ x-linked
We currently cannot retrieve any items related to this title. Kindly check back at a later time.