Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24

Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24

Item
http://www.wikidata.org/entity/Q24676774
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

Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24

Item
http://www.wikidata.org/entity/Q24676774
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
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P932
P356
P1433
P1476
Homozygosity and linkage-diseq ...... terval on chromosome 10q23-q24
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P932