M. Burley

发表

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

S Povey, D Ravine, D Lindhout, 1997, Science.

Non-penetrance in tuberous sclerosis

S. Povey, M. Burley, A. Jones, 2000, The Lancet.

A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients

Janet M. Young, R. Ekong, S. Povey, 1998, Annals of human genetics.

An Attempt to Map Two Genes for Tuberous Sclerosis Using Novel Two‐Point Methods a

J. Haines, N. Morton, J. Attwood, 1991, Annals of the New York Academy of Sciences.

Two loci for Tuberous Sclerosis: one on 9q34 and one on 16p13

J. Attwood, J. Edwards, S. Povey, 1994, Annals of human genetics.

GENETIC RECOMBINATION BETWEEN TUBEROUS SCLEROSIS AND ONCOGENE v-abl

S. Povey, M. Burley, L. Al-Gazali, 1988, The Lancet.

A 19 bp deletion polymorphism adjacent to a dinucleotide repeat polymorphism at the human dopamine beta-hydroxylase locus.

S. Povey, J. Nahmias, I. Craig, 1992, Human molecular genetics.

Mapping studies on human mitochondrial glutamate oxaloacetate transaminase

S. Povey, G. Spowart, M. Burley, 1982, Annals of human genetics.

Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.

S. Povey, M. Tanner, M. Burley, 1997, The Journal of clinical investigation.

Genetic Heterogeneity in Tuberous Sclerosis. Study of a Large Collaborative Dataset a

J. Haines, M. Pericak-Vance, J. Attwood, 1991, Annals of the New York Academy of Sciences.

Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, llq, and 12q

M. Pericak-Vance, Cardiff, S. Povey, 2022 .