A 3-BP IN-FRAME DELETION OF THE PHENYLALANINE-HYDROXYLASE GENE RESULTS IN A KINETIC VARIANT OF PHENYLKETONURIA

被引：0

作者：

CAILLAUD, C ^{[1
]}

LYONNET, S ^{[1
]}

REY, F ^{[1
]}

MELLE, D ^{[1
]}

FREBOURG, T ^{[1
]}

BERTHELON, M ^{[1
]}

VILARINHO, L ^{[1
]}

OSORIO, RV ^{[1
]}

REY, J ^{[1
]}

MUNNICH, A ^{[1
]}

机构：

[1] HOP NECKER ENFANTS MALAD,INSERM,U 12,UNITE RECH HANDICAPS GENET,F-75743 PARIS 15,FRANCE

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1991年 / 49卷 / 04期

关键词：

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：95 / 95

页数：1

共 50 条

[31] Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation
Koczkowska, Magdalena
Callens, Tom
Gomes, Alicia
Sharp, Angela
Chen, Yunjia
Hicks, Alesha D.
Aylsworth, Arthur S.
Azizi, Amedeo A.
Basel, Donald G.
Bellus, Gary
Bird, Lynne M.
Blazo, Maria A.
Burke, Leah W.
Cannon, Ashley
Collins, Felicity
DeFilippo, Colette
Denayer, Ellen
Digilio, Maria C.
Dills, Shelley K.
Dosa, Laura
Greenwood, Robert S.
Griffis, Cristin
Gupta, Punita
Hachen, Rachel K.
Hernandez-Chico, Concepcion
Janssens, Sandra
Jones, Kristi J.
Jordan, Justin T.
Kannu, Peter
Korf, Bruce R.
Lewis, Andrea M.
Listernick, Robert H.
Lonardo, Fortunato
Mahoney, Maurice J.
Ojeda, Mayra Martinez
McDonald, Marie T.
McDougall, Carey
Mendelsohn, Nancy
Miller, David T.
Mori, Mari
Oostenbrink, Rianne
Perreault, Sebastian
Pierpont, Mary Ella
Piscopo, Carmelo
Pond, Dinel A.
Randolph, Linda M.
Rauen, Katherine A.
Rednam, Surya
Rutledge, S. Lane
Saletti, Veronica
GENETICS IN MEDICINE, 2019, 21 (04) : 867 - 876
[32] Novel splice TRIO variant results in an in-frame exon deletion affecting the PH domain
Schwartzmann, Sarina
Zhao, Max Xiaohang
Hildebrand, Gabriele
Ehmke, Nadja
Horn, Denise
Mensah, Martin Atta
Boschann, Felix
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 470 - 471
[33] PHENYLALANINE-HYDROXYLASE GENE - A NOVEL SPLICE MUTATION IN INTRON-2 IN 2 GERMAN AND POLISH FAMILIES WITH SEVERE PHENYLKETONURIA
ZYGULSKA, M
EIGEL, A
PIETRZYK, JJ
HORST, J
HUMAN MUTATION, 1993, 2 (03) : 238 - 239
[34] A 3-BP DELETION IN THE RHODOPSIN GENE IN A FAMILY WITH AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA
INGLEHEARN, CF
BASHIR, R
LESTER, DH
JAY, M
BIRD, AC
BHATTACHARYA, SS
AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 48 (01) : 26 - 30
[35] A 3RD GENE LOCUS FOR TUBEROUS SCLEROSIS IS CLOSELY LINKED TO THE PHENYLALANINE-HYDROXYLASE GENE LOCUS
FAHSOLD, R
ROTT, HD
LORENZ, P
HUMAN GENETICS, 1991, 88 (01) : 85 - 90
[36] The V388M mutation results in a kinetic variant form of phenylalanine hydroxylase
Leandro, P
Rivera, I
Lechner, MC
de Almeida, IT
Konecki, D
MOLECULAR GENETICS AND METABOLISM, 2000, 69 (03) : 204 - 212
[37] MOLECULAR-GENETICS OF PHENYLKETONURIA IN ORIENTALS - LINKAGE DISEQUILIBRIUM BETWEEN AN TERMINATION MUTATION AND HAPLOTYPE-4 OF THE PHENYLALANINE-HYDROXYLASE GENE
WANG, T
OKANO, Y
EISENSMITH, R
HUANG, SZ
ZENG, YT
LO, WHY
WOO, SLC
AMERICAN JOURNAL OF HUMAN GENETICS, 1989, 45 (05) : 675 - 680
[38] SCREENING FOR MUTATIONS IN THE PHENYLALANINE-HYDROXYLASE GENE FROM ITALIAN PATIENTS WITH PHENYLKETONURIA BY USING THE CHEMICAL CLEAVAGE METHOD - A NEW SPLICE MUTATION
DIANZANI, I
FORREST, SM
CAMASCHELLA, C
SAGLIO, G
PONZONE, A
COTTON, RGH
AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 48 (03) : 631 - 635
[39] A SINGLE POLYMORPHIC STR SYSTEM IN THE HUMAN PHENYLALANINE-HYDROXYLASE GENE PERMITS RAPID PRENATAL-DIAGNOSIS AND CARRIER SCREENING FOR PHENYLKETONURIA
GOLTSOV, AA
EISENSMITH, RC
NAUGHTON, ER
JIN, L
CHAKRABORTY, R
WOO, SLC
HUMAN MOLECULAR GENETICS, 1993, 2 (05) : 577 - 581
[40] SEQUENCE-ANALYSIS OF A PARTIAL DELETION OF THE HUMAN STEROID SULFATASE GENE REVEALS 3-BP OF HOMOLOGY AT DELETION BREAKPOINTS
BERNATOWICZ, LF
LI, XM
CARROZZO, R
BALLABIO, A
MOHANDAS, T
YEN, PH
SHAPIRO, LJ
GENOMICS, 1992, 13 (03) : 892 - 893

← 1 2 3 4 5 →