Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24
about
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing proteinLocalization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43Homozygosity mapping of the Achromatopsia locus in the PingelapeseTranslational Research for Pediatric Lower Urinary Tract DysfunctionGenetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French familyLoss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndromeClinical and genetic characteristics for the Urofacial Syndrome (UFS).Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome.Urofacial syndrome: A subset of neurogenic bladder dysfunction syndromes?
P2860
Q24536172-1B726E16-6E64-4C28-9888-E9FEAA8E74F6Q24536382-E0CE54B7-85A1-4821-9314-E9BECB6CDF6EQ24539037-BB9D3875-A792-4321-BD6B-C4F1F7B83B25Q24540079-8D7DB59D-20B0-430F-89DB-29DCFA07ADBBQ28069958-E2CA65C6-53DB-468D-8CD0-67CA06ED7CE3Q28143686-B392AD8A-AAB1-4466-9106-D4B2E14E2909Q28609271-9CB7E94F-EBEE-4BCF-BE99-BAE5132CCB2CQ33803074-7E5546B1-9854-4533-A237-75E55F1409CEQ34388954-74E8274C-5BD9-43ED-967F-5889E3923A8CQ35168999-C14F52EF-8295-4714-95A0-2FA304E6BF49Q42590368-EDE40727-D7CB-429A-AA51-F85B4DBA7C27
P2860
Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Homozygosity and linkage-diseq ...... terval on chromosome 10q23-q24
@ast
Homozygosity and linkage-diseq ...... terval on chromosome 10q23-q24
@en
Homozygosity and linkage-diseq ...... terval on chromosome 10q23-q24
@nl
type
label
Homozygosity and linkage-diseq ...... terval on chromosome 10q23-q24
@ast
Homozygosity and linkage-diseq ...... terval on chromosome 10q23-q24
@en
Homozygosity and linkage-diseq ...... terval on chromosome 10q23-q24
@nl
prefLabel
Homozygosity and linkage-diseq ...... terval on chromosome 10q23-q24
@ast
Homozygosity and linkage-diseq ...... terval on chromosome 10q23-q24
@en
Homozygosity and linkage-diseq ...... terval on chromosome 10q23-q24
@nl
P2093
P2860
P356
P1476
Homozygosity and linkage-diseq ...... terval on chromosome 10q23-q24
@en
P2093
P2860
P304
P356
10.1086/515469
P407
P577
1997-06-01T00:00:00Z