Hopkins PM

Title : Genotype-phenotype relationships in butyrylcholinesterase deficiency: a systematic review - Snak_2026_Br.J.Anaesth__

Author(s) : Snak de Souza CD , Ibarra Moreno CA , Riazi S , Hopkins PM

Ref : British Journal of Anaesthesia , : , 2026

Abstract :

PubMedSearch : Snak_2026_Br.J.Anaesth__

PubMedID: 42120224

Title : Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII alpha1 Chain - Logan_2015_Am.J.Hum.Genet_97_878

Author(s) : Logan CV , Cossins J , Rodriguez Cruz PM , Parry DA , Maxwell S , Martinez-Martinez P , Riepsaame J , Abdelhamed ZA , Lake AV , Moran M , Robb S , Chow G , Sewry C , Hopkins PM , Sheridan E , Jayawant S , Palace J , Johnson CA , Beeson D

Ref : American Journal of Human Genetics , 97 :878 , 2015

Abstract :

PubMedSearch : Logan_2015_Am.J.Hum.Genet_97_878

PubMedID: 26626625

Hopkins PM

References (2)

1. Genotype-phenotype relationships in butyrylcholinesterase deficiency: a systematic review - Snak_2026_Br.J.Anaesth__

2. Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII alpha1 Chain - Logan_2015_Am.J.Hum.Genet_97_878