P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome.

Human mutation

Volumn 10, Issue 4, 1997, Pages 326-327

  Watanabe, Y ^a   Yano, S ^a   Koga, Y ^a   Yukizane, S ^a   Nishiyori, A ^a   Yoshino, M ^a   Kato, H ^a   Ogata, T ^a   Adachi, M ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN BINDING PROTEIN; FIBRILLIN;

CONGENITAL HEART MALFORMATION; FEMALE; GENE FREQUENCY; GENETICS; HETEROZYGOTE; HUMAN; JAPAN; LETTER; MALE; MULTIPLE MALFORMATION SYNDROME; MUTATION; RESTRICTION MAPPING; SYNDROME;

ABNORMALITIES, MULTIPLE; FEMALE; GENE FREQUENCY; HEART DEFECTS, CONGENITAL; HETEROZYGOTE; HUMANS; JAPAN; MALE; MICROFILAMENT PROTEINS; MUTATION; RESTRICTION MAPPING; SYNDROME;

MLCS; MLOWN;

EID: 0030626232     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1997)10:4<326::aid-humu10>3.0.co;2-1     Document Type: Letter

References (0)