Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago.
Zenker
Martin
M
Pierson
Michel
M
Jonveaux
Philippe
P
Reis
André
A
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000368:Aged; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities; D005192:Family Health; D005260:Female; D006801:Humans; D007797:Laminin / Q000235:genetics*; D008297:Male; D009154:Mutation; D009401:Nephrosis / Q000473:pathology*; D010375:Pedigree; D013577:Syndrome
D018389:Codon, Nonsense; D007797:Laminin; C089141:laminin gamma 1