Gene: [07q312/CFTR] cystic fibrosis transmembrane conductance regulator; cystic fibrosis (mucoviscidosis; MIM:219700); congenital bilateral aplasia of the vas deferens (MIM:277180); [CF CBAVD ]

FAG

Genes encoding for calgranulins A and B (previous name: cystic fibrosis associated antigen, CFAG) are located on Chr 1q21 (GEM:01q21/S100A8 and GEM:01q21/S100A9)."

REF

CLO "Anand R &: Genomics, 9, 124-130, 1991
FUN "Anderson MP &: Science, 253, N5016, 202-205, 1991a
EXP "Anderson MP &: Science, 251, N4994, 679-682, 1991b
POL,MOL,CAG,MGC "Beaudet AL &: AJHG, 44, 319-326, 1989
POL,MUT "Bienvenu T &: Hum Genet, 95, N6, 698-702, 1995
PND,POL "Boue A &: Hum Genet, 74, N3, 288-297, 1986
PND,POL "Brock &: Hum Genet, 78, 271-275, 1988
LOC,MOL,POL,MAP "Buckle VJ &: CCG, 44, 41-42, 1987
PAT,MEB "Case &: Nature, 322, N6078, 407, 1986
CLO,SEQ,GEN,MUT "Cuppens H &: Genomics, 18, N3, 693-697, 1993
PND,POL "Curtis &: Clin Genet, 33, 53-56, 1988
POL,MOL,CAG,MGC "Cutting &: AJHG, 44, 307-318, 1989
LOC,MOL,POL,MAP "Davies KA &: Hum Genet, 77, 122-126, 1987
REV,PAT,POL,MUT "Dean M: Genomics, 3, N2, 93-99, 1988
MUT "el-Harith EA &: J Med Genet, 34, N12, 996-999, 1997
CLO,MAP,MET "Estivill X &: Nature, 326, 840-845, 1987
PND,POL "Farrall M &: AJHG, 41, 286-287, 1987
PND,POL "Farrall M &: J Med Genet, 23, 295-299, 1986
LOC,MOL,POL,MAP "Fujiwara TM &: AJHG, 44, 327-337, 1989
FUN "Goldman MJ &: Cell, 88, N4, 553-560, 1997
LOC "Heng HH &: CCG, 62, N2-3, 108-109, 1993
STR,MUT "Hull J &: Hum Mol Genet, 3, N7, 1141-1146, 1994
MUT,POL,MOP "Kerem BS &: PNAS, 87, N21, 8447-8451, 1990
POL,MOL,CAG,MGC "Kerem BS: AJHG, 44, N6, 827-834, 1989
LOC,MOL,POL,MAP "Lathrop GM &: AJHG, 42, 38-44, 1988
PND,POL "Mathy L &: Hum Genet, 75, 359-361, 1987
STR,MUT "Mercier B &: AJHG, 56, N1, 272-277, 1995
MUT "Mercier B &: J Med Genet, 31, N9, 731-734, 1994
PND,POL "Mornet &: Lancet, 1, (Feb 20), 376-378, 1988
MUT "Morral N &: Nature Genet, 7, N2, 169-175, 1994
FUN "Morral N &: Genomics, 10, N3, 692-698, 1991
LOC,MOL,POL,MAP "Park M &: PNAS, 85, N8, 2667-2671, 1988
POL,MOL,CAG,MGC "Ramsay M &: Genomics, 6, N1, 39-47, 1990
MUT,FUN "Rich DP &: Science, 253, 205-207, 1991
CLO,COD,SEQ,EXP,MOP "Riordan JR &: Science, 245, 1066-1073, 1989
LOC,MOL,POL,MAP "Rommens &: AJHG, 44, 307-318, 1989
LOC,MOL,POL,MAP "Scambler PJ &: NAR, 15, N9, 3639-3652, 1987
REV,MUT,FUN,PAT "Sheppard DN, Ostedgaard LS: Mol Med Today, 2, 290-297, 1996
MUT,FUN "Smit LS &: Hum Mol Genet, 4, N2, 269-273, 1995
PND,POL "Spence JE &: Hum Genet, 76, 5-10, 1987
MGC,LIN,MOL "Stanier P &: Hum Genet, 80, 309-310, 1988
MGC,LIN,MOL "Tsui LC &: AJHG, 44, 303-306, 1989
LOC,MOL,POL,MAP "Tsui LC &: Cold Spring Harbor Symp, 51, (Part I), 325-335, 1986
LOC,MOL,POL,MAP "Zengerling S &: AJHG, 40, 228-236, 1987

SWI

 SWISSPROT: P13569

KEY

pulm, git, horm, sign, ion

CLA

coding, basic

LOC

07 q31.2

MIM

 MIM: 602421

SYN

CF CBAVD

Ссылки: