Open AccessDiscovery of a novel cystathionine-beta-synthase mutation and diagnosis of homocystinuria by whole exome sequencing in a family from rural Honduras
Author(s) -
Scott A. Turner,
Mary Beth Dinulos,
Stephanie E. Vallee,
Linda S. Kennedy,
Peter W. Mason,
Dean J. Seibert,
Marco Tulio Martinez,
Heather B. Steinmetz,
Gregory J. Tsongalis,
Joel A. Lefferts
Publication year - 2015
Publication title -
case reports in clinical pathology
Language(s) - English
Resource type - Journals
eISSN - 2331-2734
pISSN - 2331-2726
DOI - 10.5430/crcp.v2n3p59
Subject(s) - homocystinuria , exome sequencing , cystathionine beta synthase , sanger sequencing , missense mutation , medicine , genetics , exome , newborn screening , mutation , consanguinity , genotyping , population , bioinformatics , genotype , biology , gene , environmental health , amino acid , methionine