Gene: [15q1/PWCR] Prader-Willi syndrome chromosome region; [PWS ]


FAG

PWCR-related genes: GEM:15q12/IPW; GEM:15q1/PAR1; GEM:15q1/PAR5; GEM:15q1/SNRPN; GEM:15q1/NDN."

REF

ABR,FUN "Christian SL &: AJHG, 57, N1, 40-48, 1995
MUT "Ishikawa T &: Am J Med Genet, 62, N4, 350-352, 1996
PND "Kubota T &: Am J Med Genet, 66, N1, 77-80, 1996
LOC,LIN,CYG,PAT "Kucerova M &: J Med Genet, 16, 234-235, 1979
PND,MOL,POL "Lerer I &: Am J Med Genet, 52, N1, 79-84, 1994
FUN "Reed ML, Leff SE &: Nature Genet, 6, N2, 163-167, 1994
LOC,LIN,CYG,PAT,REV "Rivera &: Am J Med Genet, 37, N3, 311-317, 1990
FUN "Schulze A &: Nature Genet, 12, N4, 452-454, 1996
PND "van den Ouweland AM &: Hum Genet, 95, N5, 562-567, 1995
ABR,PAT "Vickers S &: J Med Genet, 31, N6, 478-481, 1994
ABR "White L &: Am J Med Genet, 56, N1, 101-105, 1995
REV "Woodage T &: Am J Med Genet, 54, 219-226, 1994

KEY

horm, neu

CLA

unknown, basic

LOC

15 q11-12

MIM

MIM: 176270

SYN

PWS

Смотрите также:

  • Gene: [04q35/F11] coagulation factor XI (plasma thromboplastin antecedent); hypothromboplastinemia (Rosenthal syndrome, coagulation factor XI deficiency);