A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene

Vanita; V Sarhadi; A Reis; M Jung; D Singh; K Sperling; J R Singh; J Bürger

doi:10.1136/jmg.38.6.392

A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene

Vanita
, V Sarhadi
, A Reis
, M Jung
, D Singh
, K Sperling
, J R Singh
, J Bürger

Molecular Diagnostics

Publikation: Beitrag in Fachzeitschrift › Artikel › Begutachtung

Originalsprache	Englisch
Seiten (von - bis)	392-6
Seitenumfang	5
Fachzeitschrift	Journal of Medical Genetics
Volume	38
Issue	6
DOIs	https://doi.org/10.1136/jmg.38.6.392
Publikationsstatus	Veröffentlicht - Juni 2001

Research Field

Molecular Diagnostics

Zugriff auf Dokument

10.1136/jmg.38.6.392

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@article{1e51733cb82b443cb887bff17e56ad40,

title = "A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene",

keywords = "Base Sequence, Cataract/genetics, Child, Crystallins/genetics, Family Health, Female, Gene Conversion, Genes, Dominant, Genetic Variation, Humans, Male, Molecular Sequence Data, Mutation, Pedigree, Phenotype, Pseudogenes, Sequence Homology, Nucleic Acid",

author = "Vanita and V Sarhadi and A Reis and M Jung and D Singh and K Sperling and Singh, \{J R\} and J B{\"u}rger",

year = "2001",

month = jun,

doi = "10.1136/jmg.38.6.392",

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T1 - A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene

AU - Vanita, null

AU - Sarhadi, V

AU - Reis, A

AU - Jung, M

AU - Singh, D

AU - Sperling, K

AU - Singh, J R

AU - Bürger, J

PY - 2001/6

Y1 - 2001/6

KW - Base Sequence

KW - Cataract/genetics

KW - Child

KW - Crystallins/genetics

KW - Family Health

KW - Female

KW - Gene Conversion

KW - Genes, Dominant

KW - Genetic Variation

KW - Humans

KW - Male

KW - Molecular Sequence Data

KW - Mutation

KW - Pedigree

KW - Phenotype

KW - Pseudogenes

KW - Sequence Homology, Nucleic Acid

U2 - 10.1136/jmg.38.6.392

DO - 10.1136/jmg.38.6.392

M3 - Article

C2 - 11424921

SN - 0022-2593

VL - 38

SP - 392

EP - 396

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 6

ER -