Results 141 to 150 of about 151,372 (221)

High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families [PDF]

open access: bronze, 1998
Toyomasa Katagiri   +33 more
openalex   +1 more source

Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene

open access: hybrid, 1997
P. Knudsen   +10 more
openalex   +1 more source

A complete deficiency of coagulation factor XIII A‐subunit due to a novel compound heterozygote of Ser 413 Leu missense and an nt 389 (ins G) frameshift mutation

open access: bronze, 1999
Toshiyuki Niiya   +9 more
openalex   +1 more source

Missense Mutation in the Alternative Splice Region of the PAX6 Gene in Eye Anomalies [PDF]

open access: bronze, 1999
Noriyuki Azuma   +5 more
openalex   +1 more source

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