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Table 1 STK11 Mutation detected in the probands

From: Delayed diagnosis of Peutz–Jeghers syndrome due to pathological information loss or mistake in family/personal history

Family

Exon

Nucleotide

Amino acid change/effect

Documented

PJS-1

4

536C > A

P179Q

No

PJS-2

2

373_374insA

M125Nfs*38

No

PJS-3

3

454_455insGGAGAAGC

GTTTCCCAGTGTGCC

Q152Rfs*17

No

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172