Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.

Muhammad Ikram UllahAbdul NasirArsalan AhmadGaurav Vijay HarlalkaWasim AhmadMuhammad Jawad HassanEmma L BapleAndrew H CrosbyBarry A Chioza

Published in: BMC medical genetics (2018)

The combination of homozygosity mapping and DNA sequencing identified a novel mutation in Pakistani family with variable clinical features. This is second report of a mutation in L2HGDH gene from Pakistan and the largest family with L2HGA reported to date.

Keyphrases

single cell
single molecule
gene expression
circulating tumor
copy number
tertiary care
cell free
transcription factor
circulating tumor cells