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WATANABE Y
YANO S
KOGA Y
YUKIZANE S
NISHIYORI A
YOSHINO M
KATO H
Citation: Y. Watanabe et al., P1148A IN FIBRILLIN-1 IS NOT A MUTATION LEADING TO SHPRINTZEN-GOLDBERG-SYNDROME, Human mutation, 10(4), 1997, pp. 326-327
Authors:
WATANABE Y
YANO S
KOGA Y
YUKIZANE S
NISHIYORI A
YOSHINO M
OGATA T
ADACHI M
KATO H
Citation: Y. Watanabe et al., P1148A IN FIBRILLIN-1 IS NOT A MUTATION LEADING TO SHPRINTZEN-GOLDBERG-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 654-654
Authors:
SODA H
YUKIZANE S
YOSHIDA I
KOGA Y
ARAMAKI S
KATO H
Citation: H. Soda et al., A POINT MUTATION IN EXON-3 (HIS-107-]TYR) IN 2 UNRELATED JAPANESE PATIENTS WITH CARBONIC-ANHYDRASE-II DEFICIENCY WITH CENTRAL-NERVOUS-SYSTEM INVOLVEMENT, Human genetics, 97(4), 1996, pp. 435-437
Authors:
SODA H
YUKIZANE S
YOSHIDA I
ARAMAKI S
KATO H
Citation: H. Soda et al., CARBONIC-ANHYDRASE-II DEFICIENCY IN A JAPANESE PATIENT PRODUCED BY A NONSENSE MUTATION (TAT-]TAG) AT TYR-40 IN EXON-2, (Y40X), Human mutation, 5(4), 1995, pp. 348-350