Gene: [12q13/ACVRLK1] activin A receptor, type II-like kinase 1; activin A receptor, type II-like 1; Osler-Rendu-Weber syndrome 2 (ORW2; MIM:600376); telangiectasia, hereditary hemorrhagic, type II (HHT2; MIM:600376);
COM | Berg-1997 found mutations in six of six families with HHT shown to link to Chr 12q13 or in which linkage of HHT to Chr 9q33 had been excluded (for HHT1 see 09q341/ENG)." |
FAG | On activin see FAM:INH/00.0. |
REL | GEM:09q3/TGFBR1; GEM:00.0/ACVRLK3; GEM:00.0/ACVRLK4. |
REF | CLO,SEQ,GEN,LOC,MUT
"Berg JN &: AJHG, 61, N1, 60-67, 1997 LOC,MUT "Johnson DW &: Nature Genet, 13, 189-195, 1996 PRO,REL "ten Dijke P &: Oncogene, 8, 2879-2887, 1993 |
SWI | SWISSPROT: P37023 |
KEY | recp |
CLA | coding, basic |
LOC | 12 q13 |
MIM | MIM: 601284 |
EZN | ENZYME: 2.7.1.37 |
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