-transparent.png){kind=logo}
We report on the prenatal diagnosis of a fetus at risk of leprechaunism. We had previously determined the nature of the causative mutation in the insulin receptor gene in this family. The mutation removes a restriction site for the enzyme Mbo II. Genomic DNA was extracted from a chorionic villus sample and the 3' half of exon 2 was amplified by the polymerase chain reaction (PCR) followed by restriction digest. Using this method, we correctly predicted an unaffected child.
Related Publications
A Krook, and
J A Bell, and
M E Robertson, and
L Brueton, and
S O'Rahilly
November 1995,
Prenatal diagnosis,
A Krook, and
J A Bell, and
M E Robertson, and
L Brueton, and
S O'Rahilly
January 1990,
Prenatal diagnosis,
A Krook, and
J A Bell, and
M E Robertson, and
L Brueton, and
S O'Rahilly
July 1997,
Prenatal diagnosis,
A Krook, and
J A Bell, and
M E Robertson, and
L Brueton, and
S O'Rahilly
May 1995,
The Journal of clinical endocrinology and metabolism,
A Krook, and
J A Bell, and
M E Robertson, and
L Brueton, and
S O'Rahilly
February 2002,
Nihon rinsho. Japanese journal of clinical medicine,
A Krook, and
J A Bell, and
M E Robertson, and
L Brueton, and
S O'Rahilly
July 1993,
Lancet (London, England),
A Krook, and
J A Bell, and
M E Robertson, and
L Brueton, and
S O'Rahilly
October 1993,
Lancet (London, England),
A Krook, and
J A Bell, and
M E Robertson, and
L Brueton, and
S O'Rahilly
April 1995,
Metabolism: clinical and experimental,
A Krook, and
J A Bell, and
M E Robertson, and
L Brueton, and
S O'Rahilly
January 1995,
Human mutation,
A Krook, and
J A Bell, and
M E Robertson, and
L Brueton, and
S O'Rahilly
December 2017,
Turk pediatri arsivi,
